Miyoshi-like distal myopathy with mutations in anoctamin 5 gene

Revue neurologique
F BouquetB Eymard

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.

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May 9, 2003·Nature·Dimple BansalKevin P Campbell
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Citations

Sep 26, 2012·Neuromuscular Disorders : NMD·Anna SarkozyVolker Straub
Sep 7, 2013·Revue neurologique·I Pénisson-Besnier
Feb 26, 2016·Human Molecular Genetics·Danielle A GriffinLouise R Rodino-Klapac
May 15, 2013·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·T LiewluckM Milone
Nov 19, 2013·Neuromuscular Disorders : NMD·Pushpa Raj JoshiMarcus Deschauer
Jun 17, 2015·Romanian Journal of Internal Medicine = Revue Roumaine De Médecine Interne·Alexandra BastianEmilia Manole
May 26, 2017·Journal of Clinical Neuromuscular Disease·Rey Bello, Tulio Bertorini
Nov 5, 2019·The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology·Tam Thi Thanh PhuongTong Mook Kang
Apr 28, 2020·Neurology. Genetics·Thomas L WinderSwaroop Aradhya

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