Charcot-Marie-Tooth disease, type 4C

5q32 GeneReviews Google OMIM PubMed Who named it? [Charcot-Marie-Tooth disease]

*Gene map locus 5q32

CMT4C

Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C

Charcot-Marie-Tooth neuropathy, type 4C

[Clinical features: childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology; decreased motor nerve conduction velocity]

[Inheritance: autosomal recessive]


Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy	A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes	Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33
American Journal of Human Genetics	Journal of Medical Genetics	Journal of Neurology, Neurosurgery and Psychiatry

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Edited by Aldo Campana, August 21, 2012