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Article

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.

Brain : a journal of neurology - 1 Sept 2004

Le Ber Isabelle, Martinez Maria, Campion Dominique, Laquerrière Annie, Bétard Christine, Bassez Guillaume, Girard Carol, Saugier-Veber Pascale, Raux Gregory, Sergeant Nicolas, Magnier Patrick, Maisonobe Thierry, Eymard Bruno, Duyckaerts Charles, Delacourte André, Frebourg Thierry, Hannequin Didier

Abstract excerpt

The majority of proximal myotonic myopathy syndromes reported so far have been related to the myotonic dystrophy (DM) type 2 (DM2) mutation, an expanded (CCTG)n repeat in the ZNF9 gene. Here, we describe the phenotype and the histological features in muscle and brain of the first large pedigree w...

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Identifiers

PMID: 15215218
DOI: 10.1093/brain/awh216

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DMPK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15215218-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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