Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
GeT-RM Samples |
| Class |
Congenital Muscle Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
duplicated exons 8-17; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
EX8-17DUP |
| Demographic Data |
| Relation to Proband |
proband |
| Sex |
Female |
| |
| Data Elements |
| Clinical Element Type: Duchenne Muscular Dystrophy |
| (Baseline) |
| Diagnosis |
| Muscle Pain with increased activity or exercise |
Yes |
| Age at Diagnosis (in years) |
34 CONFIRMED CARRIER |
| Age at first symptom or medical concern |
8 YR |
| Relative with similar muscle disease |
Yes |
| If yes, give their relationship(s) to you |
No Data |
| Skeletal/Mobility |
| Scoliosis |
No |
| Broken bones due to DMD |
No |
| If yes, broke: |
No Data |
| Delays in motor development was initially recognized |
No |
| Toe Walking initially recognized |
No |
| Enlarged calves initially recognized |
No |
| Walking |
Yes |
| If yes, type of walking device |
No Data |
| Mobility device ie stroller, wheelchair |
No |
| If yes, age at the start of use |
No Data |
| Stand without aid |
Yes |
| Sit without aid |
Yes |
| Neurologic |
| Problem controlling behavior |
No |
| Learning disability |
No |
| Treatment |
| Use of corticosteroids |
No |
| If yes, list those you are currently taking |
No Data |
| What is the current dosage of medication(s) |
No Data |
| Use of alternative therapies |
No |
| Type of breathing device used, if any |
No Data |
| Taking heart medication |
No |
| Tendon release surgery |
No |
| If yes, give location at which surgery was performed |
No Data |
| Laboratory Tests |
| Taken the Forced Vital Capacity (FVC%) test |
No |
| Date of the most recent FVC Test |
No Data |
| Percent value from the most recent FVC Test |
No Data |
| Cardiomyopathy |
No |
| Cardiac MRI |
Yes |
| Echocardiogram |
No |
| Holter monitor |
No |
| Taken the Left Ventricular Fraction (LVEF) test |
Yes |
| Percent value from the most recent LVEF Test |
No Data |
| Taken the Left Ventricular Shortening Fraction (LVSF) test |
No |
| Percent value from the most recent LVSF Test |
No Data |
| Had muscle biopsy |
No |
| Immunohistochemistry: N-terminus |
No Data |
| Immunohistochemistry: C-terminus |
No Data |
| Immunohistochemistry: Rod domain |
No Data |
| Molecular Tests |
| Immunblot/Western blot: Quantity (%) |
No Data |
| Immunblot/Western blot: Molecular size |
No Data |
| Immunblot/Western blot: Dystrophic changes |
No Data |
| Genetic test performed |
Yes |
| If yes, list identified mutation |
DUP OF EXONS 8-17 |
| Testing method used |
No Data |
| Remarks |
Confirmed carrier; muscle pain and cramps; donor subject has a duplication of exons 8-17 in the DMD gene |
| Kellogg G, Thorsson B, Cai Y, Wisotzkey R, Pollock A, Akana M, Fox R, Jansen M, Gudmundsson EF, Patel B, Chang C, Jaremko M, Puig O, Gudnason V, Emilsson V, Molecular screening of familial hypercholesterolemia in Icelanders Scandinavian journal of clinical and laboratory investigation:1-7 2020 |
| PubMed ID: 32706999 |
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| Kozareva V, Stroff C, Silver M, Freidin JF, Delaney NF, Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model BMC medical genomics11:91 2018 |
| PubMed ID: 30342520 |
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| Kalman L, Leonard J, Gerry N, Tarleton J, Bridges C, Gastier-Foster JM, Pyatt RE, Stonerock E, Johnson MA, Richards CS, Schrijver I, Ma T, Miller VR, Adadevoh Y, Furlong P, Beiswanger C, Toji L, Quality assurance for duchenne and becker muscular dystrophy genetic testing development of a genomic DNA reference material panel The Journal of molecular diagnostics : JMD13:167-74 2010 |
| PubMed ID: 21354051 |
| Gene Cards |
DMD |
| Gene Ontology |
GO:0003779 actin binding |
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GO:0005200 structural constituent of cytoskeleton |
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GO:0005509 calcium ion binding |
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GO:0005856 cytoskeleton |
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GO:0006936 muscle contraction |
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GO:0007016 cytoskeletal anchoring |
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GO:0007517 muscle development |
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GO:0008270 zinc ion binding |
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GO:0016010 dystrophin-associated glycoprotein complex |
| NCBI Gene |
Gene ID:1756 |
| NCBI GTR |
300377 DYSTROPHIN; DMD |
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310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| OMIM |
300377 DYSTROPHIN; DMD |
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310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| Omim Description |
APO-DYSTROPHIN 1, INCLUDED |
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BMDDYSTROPHIN, INCLUDED; DMD, INCLUDED |
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CARDIOMYOPATHY, X-LINKED DILATED, INCLUDED; XLCM, INCLUDED |
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MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKERTYPES; DMD |
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