title: 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.
authors.affiliation: Centre de référence de pathologie neuromusculaire Paris-Est, institut de myologie, groupe hospitalier Pitié-Salpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France.
authors.forename: F
authors.initials: F
authors.lastname: Bouquet
authors.forename: M
authors.initials: M
authors.lastname: Cossée
authors.forename: A
authors.initials: A
authors.lastname: Béhin
authors.forename: N
authors.initials: N
authors.lastname: Deburgrave
authors.forename: N
authors.initials: N
authors.lastname: Romero
authors.forename: F
authors.initials: F
authors.lastname: Leturcq
authors.forename: B
authors.initials: B
authors.lastname: Eymard
mesh_terms: D000328:Adult; D000075368:Anoctamins; D018118:Chloride Channels / Q000235:genetics*; D049310:Distal Myopathies / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000502:physiology; D010375:Pedigree; D035781:Siblings
chemical_list: C547813:ANO5 protein, human; D000075368:Anoctamins; D018118:Chloride Channels