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.

中文翻译：

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Charcot-Marie-Tooth 2Y 表型收敛与新型 VCP 突变。

Charcot-Marie-Tooth (CMT) 病是一种遗传性运动和感觉神经病，具有具有不同遗传模式和表型表现的亚型。亚型还因许多基因的遗传变异而异。VCP 基因中的致病变异最近与 CMT 2 型相关。我们提出了一个 CMT 2 型家族，该家族具有新的杂合 VCP 变异和先证者、他的兄弟和父亲之间的表型变异性。