Cystinosis distal myopathy, novel clinical, pathological and genetic features
نویسندگان
چکیده
منابع مشابه
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features
Objective The aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on two different chromosomes; and to highlight the underappreciated complex forms of genetic myopathies. Patients and methods Clinical and labo...
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ژورنال
عنوان ژورنال: Neuromuscular Disorders
سال: 2017
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2017.05.010