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 |
| 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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Family Member
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2
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Relation to Proband
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mother
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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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| 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; marked weakness of distal and proximal muscles; need for wheelchair ambulation; bilateral cataracts; frontal balding; minimal facial expression with open-mouth; hypoactive deep tendon reflexes; weakness of flexion-extension of the head and neck; myotonic response noted at the thenar eminence and at the tongue; myopathic facies; weakness of facial musculature and lingual movements; myotonia of grip; temporal wasting; distal wasting; donor subject has one normal CTG repeat allele and one allele with two strong bands of approximately 900 and 1000 CTG repeats in the DMPK gene; affected daughter is GM05211; see GM05213 fibroblast |
| Asano K, Yoshimi K, Takeshita K, Mitsuhashi S, Kochi Y, Hirano R, Tingyu Z, Ishida S, Mashimo T, CRISPR Diagnostics for Quantification and Rapid Diagnosis of Myotonic Dystrophy Type 1 Repeat Expansion Disorders ACS synthetic biology13:3926-3935 2024 |
| PubMed ID: 39565688 |
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| Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT, Toji L, Development of a Genomic DNA Reference Material Panel for Myotonic Dystrophy Type 1 (DM1) Genetic Testing The Journal of molecular diagnostics : JMD13:3926-3935 2012 |
| PubMed ID: 23680132 |
| 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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