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Article

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.

American journal of human genetics - 1 Aug 2009

Renbaum Paul, Kellerman Efrat, Jaron Ranit, Geiger Dan, Segel Reeval, Lee Ming, King Mary Claire, Levy-Lahad Ephrat

Abstract excerpt

The spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of disorders characterized by degeneration and loss of anterior horn cells in the spinal cord, leading to muscle weakness and atrophy. Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH, also known as pontocerebellar hypoplasia type 1 [PCH1]) is one of the rare infantile SMA variants that include additional...

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Source

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Identifiers

PMID: 19646678
DOI: 10.1016/j.ajhg.2009.07.006
PMCID: PMC2725266

Genes

VRK1

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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