CDE Detailed Report

Disease: Congenital Muscular Dystrophy
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsies and Autopsy Tissue

Displaying 1 - 50 of 166
CDE ID CDE Name Variable Name Definition Short Description Additional Notes (Question Text) Permissible Values Description Data Type Disease Specific Instructions Disease Specific Reference Population Classification (e.g., Core) Version Number Version Date CRF Name (CRF Module / Guideline) Sub Domain Name Domain Name Size Input Restrictions Min Value Max Value Measurement Type External Id Loinc External Id Snomed External Id caDSR External Id CDISC
C12233 Preservation technique used type PresrvtnTechnqUseTyp Type of preservation technique used to preserve the specimen Type of preservation technique used to preserve the specimen Freezing or Fixation Used? Frozen;Formalin-fixed;Paraffin-embedded;Epon-embedded Frozen;Formalin-fixed;Paraffin-embedded;Epon-embedded Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19940 Histochemical stain absent text HistochemStainAbsStainText Specify histochemical stain absent staining Specify histochemical stain absent staining Absent staining for a histochemical stain Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C12526 Biopsy and autopsy type 1 predominance fiber percentage value BpApTyp1PredomFibPctVal Percentage of Type 1 predominance fiber present Percentage of Type 1 predominance fiber present Percent Type 1 fibers Alphanumeric

Only answered if "Type 1 predominance' fiber is selected

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C19972 Immunohistochemistry integrin alpha 7 status IHCIntegrinAlp7Stat The status of Integrin a7 in immunohistochemistry The status of Integrin a7 in immunohistochemistry Integrin a7 Absent;Reduced;Normal Absent;Reduced;Normal Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19908 Atrophy hypotrophy presence status AtropHypoFibPresStat The status as related to presence of atrophy/hypotrophy fibers The status as related to presence of atrophy/hypotrophy fibers Atrophy/Hypotrophy Absent;Present Absent;Present Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12249 Biopsy and Autopsy histochemical stains diagnostic abnormalities present type BpApHschmStnDiagnAbnrmlyPrsTyp The diagnostic abnormalities present on the histochenmical stains for the participant's/subject's tissue The diagnostic abnormalities present on the histochemical stains for the participant's/subject's tissue Which of the following diagnostic abnormalities were noted on histochemical stains? Fatty replacement;Endomysial fibrosis;Myofiber degeneration;Myofiber regeneration;Abnormalities of fiber type;Hypertrophic fibers;Atrophy/Hypotrophy;Myopathy-associated pathological structures;Inflammation;Abnormal storage material Fatty replacement;Endomysial fibrosis;Myofiber degeneration;Myofiber regeneration;Abnormalities of fiber type;Hypertrophic fibers;Atrophy/Hypotrophy;Myopathy-associated pathological structures;Inflammation;Abnormal storage material Alphanumeric

Choose all that apply

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C19951 Immunohistochemistry dystrophin panel stain type IHCDysPanImmunohistochemTyp Type of dystrophin panel used Type of dystrophin panel used Dystrophin panel, specify Dystrophin rod domain (DYS1_;Dystrophin N terminus of rod domain (DYS3);Dystrophin C terminus (DYS2);Dystrophin (BMD hotspot);Spectrin;Utrophin Dystrophin rod domain (DYS1_;Dystrophin N terminus of rod domain (DYS3);Dystrophin C terminus (DYS2);Dystrophin (BMD hotspot);Spectrin;Utrophin Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C18828 Histochemical stains used other text HistchmclStainUseOTH The free-text field related to 'Histochemical stains used type' specifying other text. Type of standard histochemical stains used on the tissue specimen The free-text field related to 'Histochemical stains used type' specifying other text. Type of standard histochemical stains used on the tissue specimen Other, specify Alphanumeric

Choose all that apply

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

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C19983 Immunohistochemistry CD138 presence status IHCCD138PresStat The status of the presnce of CD138 in immunohistochemistry The status of the presnce of CD138 in immunohistochemistry CD138 Absent;Present Absent;Present Alphanumeric

If present; specify the percent of lymphocytes

Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19919 Biopsy and autopsy strongly succinate dehydrogenase reactive blood vessels estimated percentage value BpApStrSDHReactBldVessEstCt Strongly succinate dehydrogenase (SDH)-reactive blood vessels (SSV's) estimated percentage value Strongly succinate dehydrogenase (SDH)-reactive blood vessels (SSV's) estimated percentage value Moderate (present in:) Numeric Values No references available Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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0 100 percent
C19930 Biopsy and autopsy tubular aggregates status BpApTubAggStat Tubular aggregates status in biopsy/autopsy Tubular aggregates status in biopsy/autopsy Tubular aggreggates Absent;Sparse;Moderate Absent;Sparse;Moderate Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12268 Immunohistochemical stain used muscle biopsy and autopsy type ImmhistchmclStnUseMuscBpAp Which immunohistochemical stains were used on muscle biopsy? Which immunohistochemical stains were used on muscle biopsy? Which immunohistochemical stains were used? Myosin immunohistochemistry;Dystrophin panel;Other stains for limb-girdle or congenital muscular dystrophy;Inflammatory myopathy panel;Protein aggregate myopathy panel Myosin immunohistochemistry;Dystrophin panel;Other stains for limb-girdle or congenital muscular dystrophy;Inflammatory myopathy panel;Protein aggregate myopathy panel Alphanumeric

Choose all that apply. If dystrophin panel, Other stains for limb-girdle or congenital muscular dystrophy, or Inflammatory myopathy panel were answered for "Which immunohistochemical stains were performed?", specify stains used.

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C20325 Biopsy and autopsy inflammation description type BpApInflamDescTyp The descriptions as related to perivascular inflammation is focused around blood vessels, whereas diffuse inflammation also spreads across the muscle tissue. Inflammatory cells identified include lymphocytes, neutrophils, macrophages, and eosinophils. At times, microorganisms can be identified and should be mentioned. The descriptions as related to perivascular inflammation is focused around blood vessels, whereas diffuse inflammation also spreads across the muscle tissue. Inflammatory cells identified include lymphocytes, neutrophils, macrophages, and eosinophils. Inflammation, specify Distribution;Associated with myofiber damage;Associated with non-necrotic myofiber;Granulomas;Inflammatory cells identified Distribution;Associated with myofiber damage;Associated with non-necrotic myofiber;Granulomas;Inflammatory cells identified Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-17 11:38:01.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19962 Immunohistochemistry alpha dystroglycan IIH status IHCAlpDystroglyIIHStat The status of Alpha dystroglycan (IIH) in immunohistochemistry The status of Alpha dystroglycan (IIH) in immunohistochemistry Alpha dystroglycan (IIH) Absent;Reduced;Normal Absent;Reduced;Normal Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19898 Elevated C reactive protein indicator ElevatCReactProtInd Indicator of whether participant/subject experienced elevated C reactive protein levels. Indicator of whether participant/subject experienced elevated C reactive protein levels. Elevated C-reactive protein (CRP) No;Yes;Unknown No;Yes;Unknown Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19994 Immunohistochemistry alphaB crystallin aggregate level status IHCAlpBCrystallinAggregLvlStat Level of aB crystallin aggregate Level of aB crystallin aggregate aB crystallin Normal;Increased Normal;Increased Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12234 Preservation technique used amount value PresrvtnTechnqUseAmntVal Value of the amount of preservation solution or material used to preserve the specimen Value of the amount of preservation solution or material used to preserve the specimen Amount Alphanumeric

Answer for the freezing or fixation technique used. Answer should be recorded in milligrams (mg). If amount used is not known, select Not known.

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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milligram
C19941 Biopsy and autopsy distribution type BpApDistrTyp Type of distribution of inflammation Type of distribution of inflammation Distribution Perivascular;Focal;Diffuse;Endomysial;Involving fascia;Perimysial Perivascular;Focal;Diffuse;Endomysial;Involving fascia;Perimysial Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12527 Biopsy and autopsy type 2 predominance fiber percentage value BpApTyp2PredomFibPctVal Percentage of Type 2 predominance fiber present Percentage of Type 2 predominance fiber present Percent of Type 2 fibers Alphanumeric

Only answered if "Type 2 predominance' fiber is selected

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C19973 Immunohistochemistry neuronal nitric oxide synthase status IHCnNOSStat The status of neuronal nitric oxide synthase in immunohistochemistry The status of neuronal nitric oxide synthase in immunohistochemistry nNOS Absent;Reduced;Normal Absent;Reduced;Normal Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19909 Biopsy and autopsy nuclear bags clumps status BpApAutoNucBagsClumpStat The status as related to presence of nucelar bags/clumps The status as related to presence of nucelar bags/clumps Nuclear bags/clumps Absent;Present Absent;Present Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12251 Biopsy and autopsy atrophy or hypotrophy type BpApAtrphyHypotrphyTyp Atrophy/ hypertrophy type Atrophy/ hypotrophy type Specify All fibers within the specimen;Subset of fibers, leading to excessive variation in fiber size;Atrophic/hypertrophic fiber shape;Nuclear bags/clumps;Perifascicular distribution All fibers within the specimen;Subset of fibers, leading to excessive variation in fiber size;Atrophic/hypertrophic fiber shape;Nuclear bags/clumps;Perifascicular distribution Alphanumeric

Only answered if "Atrophy/Hypotrophy" is answered for "Which of the following diagnostic abnormalities were noted on histochemical stains?"

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19952 Immunohistochemistry dystrophin rod domain status IHCDysRodDomStat The status of dystrophin rod domain (DYS1) in immunohistochemistry The status of dystrophin rod domain (DYS1) in immunohistochemistry Dystrophin rod domain (DYS1) Absent;Reduced;Cytoplasmic;Normal Absent;Reduced;Cytoplasmic;Normal Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19888 Age biopsy year value AgeBiopsyYearVal Age (in years) of participant/subject at biopsy Age (in years) of participant/subject at biopsy Age at biopsy Numeric Values Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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year
C19984 Immunohistochemistry CD138 percentage value IHCCD138PercentVal Percent value of C138 Percent value of C138 Present in Numeric Values Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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0 100 percent
C19920 Biopsy and autopsy central cores status BpApCentralCoreStat Central cores status in biopsy Central cores status in biopsy Central cores Absent;Sparse;Moderate Absent;Sparse;Moderate Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19931 Biopsy and autopsy tubular aggregates estimated percentage value BpApTubAggEstCt Tubular aggregates estimated percentage value Tubular aggregates estimated percentage value Moderate (present in:) Numeric Values No references available Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Free-Form Entry

0 100 percent
C12269 Biopsy and autopsy immunohistochemical immunofluorescence assays performed BpApImnhschmImnflrsncAssyPerf List of stains used List of stains used Immunohistochemical/ Immunofluorescence assays performed Alphanumeric

List the stains used based upon answers in question 3

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C20326 Biopsy autopsy excessive glycogen status BpApExessGlycoStat The status related to glycogen storage pathology which involves excess PAS+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. Mild glycogen storage pathology is difficult to determine at the light microscopic level and may only be evident on PAS stain or electron microscopy. The status related to glycogen storage pathology which involves excess PAS+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. Excessive glycogen Absent;Mild;Marked Absent;Mild;Marked Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-18 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19963 Immunohistochemistry beta dystroglycan status IHCBetaDystroglyStat The status of Beta dystroglycan in immunohistochemistry The status of Beta dystroglycan in immunohistochemistry Beta dystroglycan Absent;Reduced;Normal Absent;Reduced;Normal Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19899 Elevated C reactive protein value ElevatCReactProtVal The elevated C-reactive protein value The elevated C-reactive protein value Patient Value Numeric Values

No instructions available

No references available Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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C19995 Immunohistochemistry ubiquitin aggregate level status IHCUbiquitinAggregLvlStat Level of ubiquitin aggregate Level of ubiquitin aggregate Myotilin Normal;Increased Normal;Increased Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12235 Histochemical stains used type HistchmclStainUseTyp Type of standard histochemical stains used on the tissue specimen Type of standard histochemical stains used on the tissue specimen Which standard histochemical stains were used? H and E;Other, specify;NADH;SDH/COX;Oil Red O;ATPase 4.3;ATPase 4.6;ATPase 9.4;Acid phosphatase;Phosphorylase;Phosphofructokinase;Sudan black;SDH;COX;Esterase;Gomori trichrome;Myoadenylate deaminase;PAS H and E;Other, specify;NADH;SDH/COX;Oil Red O;ATPase 4.3;ATPase 4.6;ATPase 9.4;Acid phosphatase;Phosphorylase;Phosphofructokinase;Sudan black;SDH;COX;Esterase;Gomori trichrome;Myoadenylate deaminase;PAS Alphanumeric

Choose all that apply

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C19942 Biopsy and autopsy granulomas type BpApGranTyp Type of granulomas of inflammation Type of granulomas of inflammation Granulomas Necrotizing;Non-necrotizing;Giant cells present;Foreign material present Necrotizing;Non-necrotizing;Giant cells present;Foreign material present Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12528 Biopsy and autopsy nemaline rods restricted to one fiber text BpApNemaRodRstrct1FibTxt Nemaline rods restricted to one fiber text Nemaline rods restricted to one fiber text Restricted to one fiber type, specify which Numeric Values

Only answered if "Nemaline rod , restricted to one fiber type" is answered for "Myopathy-associated pathological structures"

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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C19974 Immunohistochemistry inflammatory mypoathy panel stain type InflamMyoPanImmStainTyp Type of inflammatory myopathy panel used Type of inflammatory myopathy panel used Inflammatory myopathy panel CD3;CD45;CD4;CD8;CD20;CD138;CD68;C5b-9;Major histocompatibility complex CD3;CD45;CD4;CD8;CD20;CD138;CD68;C5b-9;Major histocompatibility complex Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19910 Biopsy and autopsy trichome red inclusions status BpApRedInclusTrichStat Red inclusions on trichome status Red inclusions on trichome status Red inclusions on trichome Absent;Sparse;Moderate Absent;Sparse;Moderate Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12252 Biopsy and autopsy fiber size variation result type BpApFibSizeVariResltTyp Distribution of the atrophic fibers. Distribution of the atrophic fibers. Specify Single fibers;Groups of fibers;Type 1 fibers only;Type 2 fibers only;Perifascicular distribution Single fibers;Groups of fibers;Type 1 fibers only;Type 2 fibers only;Perifascicular distribution Alphanumeric

Only answered if "Subsets of fibers, leading to excessive variation in fiber size, specify" is answered for "Atrophy/Hypotrophy". Choose all that apply

No references available Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C19953 Immunohistochemistry dystrophin C terminus status IHCDysCTerminStat The status of dystrophin C terminus (DYS2) in immunohistochemistry The status of dystrophin C terminus (DYS2) in immunohistochemistry Dystrophin C terminus (DYS2) Absent;Reduced;Cytoplasmic;Normal Absent;Reduced;Cytoplasmic;Normal Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19889 Symptom presentation weakness distribution type SymptmPresentWeakDisTyp Weakness distribution symptoms participant/ subject shows at presentation Weakness distribution symptoms participant/ subject shows at presentation Weakness (distribution) Asymmetrical;Symmetrical;Proximal;Distal;Limb girdle;Facioscapulohermal;Neck;Paraspinal;Finger flexion;Other, specify Asymmetrical;Symmetrical;Proximal;Distal;Limb girdle;Facioscapulohermal;Neck;Paraspinal;Finger flexion;Other, specify Alphanumeric

Check all that apply.

No references available Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19985 Immunohistochemistry CD45 presence status IHCCD45PresStat The status of the presence of CD45 in immunohistochemistry The status of the presence of CD45 in immunohistochemistry CD45 Absent;Present Absent;Present Alphanumeric

If present; specify the percent of lymphocytes

Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19921 Biopsy and autopsy central cores estimated percentage value BpApCentralCoreEstCt Central cores estimated percentage value Central cores estimated percentage value Moderate (present in:) Numeric Values No references available Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Free-Form Entry

0 100 percent
C19932 Biopsy and autopsy ring fibers status BpApRingFibStat Ring fibers status in biopsy/autopsy Ring fibers status in biopsy/autopsy Ring fibers Absent;Sparse;Moderate Absent;Sparse;Moderate Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12276 Biopsy and autopsy mitochondria abnormality type BpApMitochAbnrmlyTyp Type of mitochondria abnormality in muscle biopsy Type of mitochondria abnormality in muscle biopsy Abnormalities noted in Mitochondria, specify Abnormal shape;Abnormal location;Abnormal numbers;Abnormal architecture;Abnormal size Abnormal shape;Abnormal location, specify;Abnormal numbers;Abnormal architecture;Abnormal size Alphanumeric

Choose all that apply. Only answered if "Mitochondria" is answered for "Abnormalities noted in"

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C20327 Biopsy autopsy excessive intracellular lipid status BpApExessIntraceLipidStat The status related to excessive intracellular lipid storage pathology which involves excess Oil Red O+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. The status related to excessive intracellular lipid storage pathology which involves excess Oil Red O+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. Excessive intracellular lipid Absent;Mild;Marked Absent;Mild;Marked Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-18 08:54:08.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19964 Immunohistochemistry alpha sarcoglycan status IHCAlpSarcoglyStat The status of Alpha sarcoglycan in immunohistochemistry The status of Alpha sarcoglycan in immunohistochemistry Alpha sarcoglycan Absent;Reduced;Normal Absent;Reduced;Normal Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19900 Laboratory findings autoantibody known text LabFinAutoAntiKnownText Text of the known autoantibodies in patient Text of the known autoantibodies in patient Known autoantibodies in patient Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

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C19996 Biopsy and autopsy additional immunohistochemical assays performed text BpApAddImmhistchmAssPerText Specify any additional immunohistochemical/immunoflourescence assays performed Specify any additional immunohistochemical/immunoflourescence assays performed Additional immunohistochemical/immunoflourescence assays performed Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

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C00035 Gender type GenderTyp Self-reported gender of the participant/subject. Self-reported gender of the participant/subject.. Gender of Patient Alphanumeric

Choose one. Response is obtained by report of the participant/subject or caretaker.

The NIH Guidelines on Inclusion of Women and Minorities as Subjects in Clinical Research: The Office of Management and Budget Directive No. 15 (http://grants.nih.gov/grants/funding/women_min/guidelines_update.htm) Adult;Pediatric Core 3.00 2013-08-28 16:08:00.453 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

2200604
C12238 Biopsy and autopsy epon embedded tissue abnormalities location type BpApEponEmbedTissAbnrmlLocTyp Type of abnormality observed microscopically in epon-embedded tissue specimen Type of abnormality observed microscopically in epon-embedded tissue specimen Abnormalities noted in Nuclei;Contractile apparatus;Sarcotubular organization;Mitochondria, specify;Basal lamina;Satellite cells;Intramuscular nerve twigs Nuclei;Contractile apparatus;Sarcotubular organization;Mitochondria, specify (choose all that apply);Basal lamina;Satellite cells;Intramuscular nerve twigs Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

CSV