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Article

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.

Brain : a journal of neurology - 1 Jun 2012

Oates Emily C, Reddel Stephen, Rodriguez Michael L, Gandolfo Luke C, Bahlo Melanie, Hawke Simon H, Lamandé Shireen R, Clarke Nigel F, North Kathryn N

Abstract excerpt

Autosomal dominant congenital spinal muscular atrophy is characterized by predominantly lower limb weakness and wasting, and congenital or early-onset contractures of the hip, knee and ankle. Mutations in TRPV4, encoding a cation channel, have recently been identified in one large dominant congenital spinal muscular atrophy kindred, but the genetic basis of dominant congenital spinal muscular atrophy in many...

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Source

Identifiers

PMID: 22628388
DOI: 10.1093/brain/aws108

Genes

TRPV4

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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