SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype
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DOI: 10.1016/j.nmd.2020.05.009
Abstract: The spinal muscular atrophies (SMA) affect lower motor neurons leading to important muscle atrophy and paralysis. Some cases of SMA affect mostly the lower limbs and are called autosomal dominant spinal muscular atrophy, lower extremity… read more here.
Keywords: phenotype; gene mutations; bicd2 gene; mutations report ... See more keywords