Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation.

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. Copyright © 2020 Elsevier B.V. All rights reserved.

Citation

Jasmine Gite, Emily Milko, Lauren Brady, Steven K Baker. Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation. Neuromuscular disorders : NMD. 2020 Mar;30(3):232-235

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PMID: 32165109

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