A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family
نویسندگان
چکیده
منابع مشابه
A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family
INTRODUCTION Mutations in the HSPB1 gene encoding the small heat shock protein B1 are associated with an autosomal dominant, axonal form of Charcot-Marie-Tooth disease 2F (CMT2F) and distal hereditary motor neuropathy. Recently, distal myopathy had been described in a patient carrying HSPB1 mutation adding to the complexity of phenotypes resulting from HSPB1 mutations. METHODS Five patients i...
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ژورنال
عنوان ژورنال: Brain and Behavior
سال: 2017
ISSN: 2162-3279
DOI: 10.1002/brb3.774