Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

doi:10.1016/j.ajhg.2013.04.011

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Article

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

American journal of human genetics - 6 Jun 2013

Neveling Kornelia, Martinez-Carrera Lilian A, Hölker Irmgard, Heister Angelien, Verrips Aad, Hosseini-Barkooie Seyyed Mohsen, Gilissen Christian, Vermeer Sascha, Pennings Maartje, Meijer Rowdy, te Riele Margot, Frijns Catharina J M, Suchowersky Oksana, MacLaren Linda, Rudnik-Schöneborn Sabine, Sinke Richard J, Zerres Klaus, Lowry R Brian, Lemmink Henny H, Garbes Lutz, Veltman Joris A, Schelhaas Helenius J, Scheffer Hans, Wirth Brunhilde

Abstract excerpt

Spinal muscular atrophy (SMA) is a heterogeneous group of neuromuscular disorders caused by degeneration of lower motor neurons. Although functional loss of SMN1 is associated with autosomal-recessive childhood SMA, the genetic cause for most families affected by dominantly inherited SMA is unkno...

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Identifiers

PMID: 23664116
DOI: 10.1016/j.ajhg.2013.04.011
PMCID: PMC3675237

Genes

BICD2
SMN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-23664116-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

Related research

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Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.PMID 23664116Read ↗

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Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.Semantic proximity Read ↗

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Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophySemantic proximity Read ↗

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.Semantic proximity Read ↗

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Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.Semantic proximity Read ↗

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Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.Semantic proximity Read ↗

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