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Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.

Abstract
Miyoshi myopathy is the most common form of recessive distal myopathy. Recessive mutations in the ANO5 gene have been recently identified in Northern Europe as a cause of non dysferlin-linked distal myopathy and limb girdle muscular dystrophy. We report here the first French cases of anoctamin 5 myopathy in 2 brothers presenting with a Miyoshi-like pattern. Comparing these patients with 12 other cases from the literature shows that all cases share a homogeneous clinical pattern, characterized by initial calf muscles involvement. Asymmetric muscle atrophy often precedes weakness. In this setting, high CK level and normal expression of dysferlin in muscle should lead to consider the diagnosis, which will be confirmed by ANO5 gene testing. The c.191dupA mutation, already reported as a founder mutation in Caucasian patients with anoctamin myopathies, was found in our family in a heterozygous state.
AuthorsF Bouquet, M Cossée, A Béhin, N Deburgrave, N Romero, F Leturcq, B Eymard
JournalRevue neurologique (Rev Neurol (Paris)) Vol. 168 Issue 2 Pg. 135-41 (Feb 2012) ISSN: 0035-3787 [Print] France
PMID22336395 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2012 Elsevier Masson SAS. All rights reserved.
Chemical References
  • ANO5 protein, human
  • Anoctamins
  • Chloride Channels
Topics
  • Adult
  • Anoctamins
  • Chloride Channels (genetics)
  • Distal Myopathies (diagnosis, genetics)
  • Heterozygote
  • Humans
  • Male
  • Muscular Atrophy (diagnosis, genetics)
  • Mutation (physiology)
  • Pedigree
  • Siblings

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