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Article

[Premutation in myotonic dystrophy].

Nihon rinsho. Japanese journal of clinical medicine - 1 Apr 1999

Komai K, Matsumoto Y, Takamori M

Abstract excerpt

Myotonic dystrophy(MyD) is caused by the abnormal expansion of CTG repeats in the 3' untranslated region of a gene encoding a protein kinase. Although some sporadic cases of MyD have been reported, the molecular basis of the intergenerational CTG expansion from asymptomatic parents is not fully understood. To determine the frequency of sporadic cases, we surveyed our clinical records of 40 MyD patients. Four...

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PMID: 10222791

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.Semantic proximity Read ↗

Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles.Semantic proximity Read ↗

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