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Article

Clinical spectrum of BICD2 mutations.

European journal of neurology - 1 Jul 2020

Frasquet M, Camacho A, Vílchez R, Argente-Escrig H, Millet E, Vázquez-Costa J F, Silla R, Sánchez-Monteagudo A, Vílchez J J, Espinós C, Lupo V, Sevilla T

Abstract excerpt

BACKGROUND AND PURPOSE: Mutations in the BICD2 gene cause autosomal dominant lower extremity-predominant spinal muscular atrophy 2A (SMALED2A), a condition that is associated with a specific pattern of thigh and calf muscle involvement when studied by magnetic resonance imaging (MRI). Patients may present minor clinical sensory impairment, but objective sensory involvement has yet to be demonstrated. METHODS: We...

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PMID: 32056343
DOI: 10.1111/ene.14173

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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