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Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

Brain : a journal of neurology - 1 Jul 2011

Nicholson Garth, Lenk Guy M, Reddel Stephen W, Grant Adrienne E, Towne Charles F, Ferguson Cole J, Simpson Ericka, Scheuerle Angela, Yasick Michelle, Hoffman Stuart, Blouin Randall, Brandt Carla, Coppola Giovanni, Biesecker Leslie G, Batish Sat D, Meisler Miriam H

Abstract excerpt

Charcot-Marie-Tooth disease is a genetically heterogeneous group of motor and sensory neuropathies associated with mutations in more than 30 genes. Charcot-Marie-Tooth disease type 4J (OMIM 611228) is a recessive, potentially severe form of the disease caused by mutations of the lipid phosphatase FIG4. We provide a more complete view of the features of this disorder by describing 11 previously unreported patients...

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PMID: 21705420
DOI: 10.1093/brain/awr148
PMCID: PMC3122378

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

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