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Article

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.

American journal of human genetics - 7 Dec 2012

Rinaldi Carlo, Grunseich Christopher, Sevrioukova Irina F, Schindler Alice, Horkayne-Szakaly Iren, Lamperti Costanza, Landouré Guida, Kennerson Marina L, Burnett Barrington G, Bönnemann Carsten, Biesecker Leslie G, Ghezzi Daniele, Zeviani Massimo, Fischbeck Kenneth H

Abstract excerpt

Cowchock syndrome (CMTX4) is a slowly progressive X-linked recessive disorder with axonal neuropathy, deafness, and cognitive impairment. The disease locus was previously mapped to an 11 cM region at chromosome X: q24-q26. Exome sequencing of an affected individual from the originally described family identified a missense change c.1478A>T (p.Glu493Val) in AIFM1, the gene encoding apoptosis-inducing factor (AIF)...

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Identifiers

PMID: 23217327
DOI: 10.1016/j.ajhg.2012.10.008
PMCID: PMC3516602

Genes

AIFM1

Variants

Provenance

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Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.PMID 23217327Read ↗

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