Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

doi:10.1086/378566

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Article

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

American journal of human genetics - 1 Oct 2003

Bachinski Linda L, Udd Bjarne, Meola Giovanni, Sansone Valeria, Bassez Guillaume, Eymard Bruno, Thornton Charles A, Moxley Richard T, Harper Peter S, Rogers Mark T, Jurkat-Rott Karin, Lehmann-Horn Frank, Wieser Thomas, Gamez Josep, Navarro Carmen, Bottani Armand, Kohler Andre, Shriver Mark D, Sallinen Riitta, Wessman Maija, Zhang Shanxiang, Wright Fred A, Krahe Ralf

Abstract excerpt

Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, is a clinically and genetically heterogeneous neuromuscular disorder. DM is characterized by autosomal dominant inheritance, muscular dystrophy, myotonia, and multisystem involvement. Type 1 DM (DM1) is caused by a (CT...

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PMID: 12970845
DOI: 10.1086/378566
PMCID: PMC1180606

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12970845-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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