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Article

Genotype-phenotype correlation in myotonic dystrophy.

Clinical genetics - 1 Jan 1998

Gharehbaghi-Schnell E B, Finsterer J, Korschineck I, Mamoli B, Binder B R

Abstract excerpt

Myotonic dystrophy (DM) is caused by a mutation in the length of a trinucleotide (CTG) repeat in the 3' untranslated region of the myotonin protein kinase gene located on chromosome 19q13.3. The normal gene has between 5 and 36 CTG trinucleotide repeats, whereas minimally affected individuals have 50 copies and severely affected DM-patients have several thousands of such repeats. Since no information on a...

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Identifiers

PMID: 9550357
DOI: 10.1034/j.1399-0004.1998.531530105.x

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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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