A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Sign Up to like & getrecommendations! Published in 2018 at "Neurology"
DOI: 10.1212/wnl.0000000000005862
Abstract: Objective To describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified. Methods Patients diagnosed with centronuclear myopathy (CNM) at 5 major… read more here.
Keywords: roma; founder; bin1; centronuclear myopathy ... See more keywords
Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients
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DOI: 10.3389/fgene.2022.825793
Abstract: Congenital muscular dystrophy with early rigid spine, also known as the rigid spine with muscular dystrophy type 1 (RSMD1), is caused by SEPN1 mutation. We investigated the clinical manifestations, pathological features, and genetic characteristics of… read more here.
Keywords: dystrophy type; rigid spine; spine muscular; muscular dystrophy ... See more keywords