GM05151
Fibroblast from Skin, Unspecified
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
Muscular Dystrophies |
| Class |
Disorders with Trinucleotide Expansions |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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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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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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| PDL at Freeze |
3.71 |
| Passage Frozen |
4 |
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| Gene |
DMPK |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
605377.0001; MYOTONIC DYSTROPHY |
| Identified Mutation |
(CTG)n EXPANSION; The consistent genetic defect associated with myotonic dystrophy is an amplified trinucleotide CTG repeat in the 3-prime untranslated region of the serine-threonine kinase gene DMK on 19q. Unaffected individuals have between 5 and 27 copies. DM patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat-containing segment up to several kilobases. |
| Remarks |
Clinically affected; weakness in hands noted at age 43; pain in calf muscles after walking and fatigue in legs; problems with balance; palmar erythema on the hands; slight ataxia in lower extremities; slight lordosis; hypoactive reflexes; weakness in all extremity muscles; abnormal esophageal motility; long, thin face; thin extremities and thin chest; weakness of neck flexion; myotonia; myopathic facies; muscle biopsy showed "type I fiber atrophy which is characteristic of myotonic dystrophy"; EMG exam was "consistent with a polyneuropathy and tardy ulnar palsy"; donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1500 in the DMPK gene; see GM05152 lymphocyte |
| Aoki Y, Ohki A, Yanaizu M, Kino Y, Comparative Analysis of MBNL1 Antibodies: Characterization of Recognition Sites and Detection of RNA Foci Colocalization Genes16: 2025 |
| PubMed ID: 40565550 |
| 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 |
| Passage Frozen |
4 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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