Case Report: TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII

• Main Authors: Fengge Wang (Author), Xuemei Jin (Author), Yongning Zhu (Author), Shuli Jiang (Author), Xiaoyan Zhang (Author), Yanping Wang (Author), Dongmei Man (Author), Fuling Wang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Neuronopathy, distal hereditary motor, type VIII is an exceedingly rare autosomal dominant genetic disorder, also known as congenital non-progressive distal spinal muscular atrophy. It is characterized by progressive weakness in distal motor function and atrophy of muscles, without accompanying sens...