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Article

SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype.

Neuromuscular disorders : NMD - 1 Aug 2020

Picher-Martel Vincent, Morin Clément, Brunet Denis, Dionne Annie

Abstract excerpt

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 predominant (SMALED). So far, two genes have been identified to cause this phenotype, DYNC1H1 (SMALED1) and BICD2 (SMALED2). This pathology is rare, but patients exhibit classical...

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Identifiers

PMID: 32709491
DOI: 10.1016/j.nmd.2020.05.009

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