| Literature DB >> 32165109 |
Jasmine Gite1, Emily Milko2, Lauren Brady3, Steven K Baker4.
Abstract
Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy, has subtypes with varied inheritance patterns and phenotypic presentation. Subtypes additionally vary by genetic variants in a number of genes. Pathogenic variants in the VCP gene have newly been associated with CMT type 2. We present a family with CMT type 2 with a novel heterozygous VCP variant and phenotypic variability between the proband, his brother, and father.Entities:
Keywords: Acquired & hereditary neuropathies; Charcot Marie Tooth disease; Peripheral neuropathy
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Year: 2020 PMID： 32165109 DOI： 10.1016/j.nmd.2020.02.002
Source DB: PubMed Journal: Neuromuscul Disord ISSN： 0960-8966 Impact factor: 4.296