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