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Article

Myotilinopathy: refining the clinical and myopathological phenotype.

Brain : a journal of neurology - 1 Oct 2005

Olivé Montse, Goldfarb Lev G, Shatunov Alexey, Fischer Dirk, Ferrer Isidro

Abstract excerpt

Mutations in myotilin gene (MYOT) have been associated with variable syndromes including limb girdle muscular dystrophy type 1A (LGMD1A) and a subgroup of myofibrillar myopathy (MFM/MYOT). We studied six Spanish patients from three unrelated kindreds and seven patients without family history. Three previously reported and two novel disease-associated MYOT mutations were identified in this group of patients. The...

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Source

Identifiers

PMID: 15947064
DOI: 10.1093/brain/awh576

Genes

MYOT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Myotilinopathy: refining the clinical and myopathological phenotype.PMID 15947064Read ↗

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