Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features
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DOI: 10.1038/ejhg.2017.98
Abstract: Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness… read more here.
Keywords: extremes bicd2; atrophy arthrogryposis; congenital muscular; disease ... See more keywords