Description:
MYOTUBULAR MYOPATHY 1; MTM1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
CMD Specific |
| 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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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Northern European,Italian
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Country of Origin
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USA
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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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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 |
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| Gene |
MTM1 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
; MYOTUBULAR MYOPATHY, X-LINKED |
| Identified Mutation |
c.1088_1089delAA |
| |
| Gene |
MTM1 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 2 |
; MYOTUBULAR MYOPATHY, X-LINKED |
| Identified Mutation |
IVS2-14T>C |
| Remarks |
Affected; Mutation c.1088_1089delAA identified in MTM1 gene. Polymorphism: IVS2-14T>C. Subject has: hydrocephalus, developmental delay, hypotonia, muscle weakness, dysphagia, chronic respiratory insufficiency, tracheostomy and G tube; brain MRI findings: severe ventriculomegaly, marked white matter volume loss, increased T2 signal in the central tegmental tracts, asymmetry in the cerebellar hemispheres |
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