NA03755
DNA from Fibroblast
Description:
DYSTROPHIA MYOTONICA 1; DM1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization - other
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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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| Remarks |
Typical phenotype; mother, 2 brothers and a sister also affected; see GM03756 Lymphoid; characterization of lymphoblast DNA showed expansion of CTG repeat is <1.5 kb detectable by Southern analysis corresponding to up to 500 CTG repeats; heterozygous for a C-to-T substitution at nucleotide 677 that converts an alanine to a valine residue in the methylenetetrahydrofolate reductase (MTHFR) gene (677C-T) |
| NCBI GTR |
160900 MYOTONIC DYSTROPHY 1; DM1 |
| OMIM |
160900 MYOTONIC DYSTROPHY 1; DM1 |
| Omim Description |
DM PROTEIN KINASE, INCLUDED |
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DYSTROPHIA MYOTONICA; DM |
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DYSTROPHIA MYOTONICA; DMPK |
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MYOTONIC DYSTROPHY |
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MYOTONIC DYSTROPHY PROTEIN KINASE, INCLUDED; MDPK, INCLUDED |
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MYOTONIN-PROTEIN KINASE, INCLUDED |
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STEINERT DISEASEDM-KINASE, INCLUDED; DMK, INCLUDED |
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