Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

doi:10.1093/brain/awu356

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Article

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Brain : a journal of neurology - 1 Feb 2015

Rossor Alexander M, Oates Emily C, Salter Hannah K, Liu Yang, Murphy Sinead M, Schule Rebecca, Gonzalez Michael A, Scoto Mariacristina, Phadke Rahul, Sewry Caroline A, Houlden Henry, Jordanova Albena, Tournev Iyailo, Chamova Teodora, Litvinenko Ivan, Zuchner Stephan, Herrmann David N, Blake Julian, Sowden Janet E, Acsadi Gyuda, Rodriguez Michael L, Menezes Manoj P, Clarke Nigel F, Auer Grumbach Michaela, Bullock Simon L, Muntoni Francesco, Reilly Mary M, North Kathryn N

Abstract excerpt

Spinal muscular atrophy is a disorder of lower motor neurons, most commonly caused by recessive mutations in SMN1 on chromosome 5q. Cases without SMN1 mutations are subclassified according to phenotype. Spinal muscular atrophy, lower extremity-predominant, is characterized by lower limb muscle weakness and wasting, associated with reduced numbers of lumbar motor neurons and is caused by mutations in DYNC1H1,...

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Identifiers

PMID: 25497877
DOI: 10.1093/brain/awu356
PMCID: PMC4306822

Genes

BICD2
SMN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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