A family with both X‐linked dominant Charcot–Marie–Tooth disease and myotonic dystrophy type 1 mutations with phenotypic variations. Issue 2 (19th November 2018)

• Record Type: Journal Article
• Authors: Mori, Chiaki; Nakatani, Rie; Nakamori, Masayuki; Matsumura, Tsuyoshi; Takahashi, Masanori P.; Fujimura, Harutoshi; Mochizuki, Hideki; Sakoda, Saburo
• Is Part Of: Neurology and clinical neuroscience. Volume 7:Issue 2(2019:Mar.)
• Page Start: 88
• Page End: 90
• Publication Date: 2018-11-19
• Subjects: Charcot–Marie–Tooth disease -- CMT1X -- combined disease -- hereditary motor and sensory neuropathy -- myotonic dystrophy; Neurology -- Periodicals; Neurosciences -- Periodicals; 616.8
• DOI: 10.1111/ncn3.12251
• Languages: English
• ISSNs: 2049-4173

Abstract

Abstract: We report 2 members of a family with gene mutations for both X‐linked dominant Charcot–Marie–Tooth disease and myotonic dystrophy type 1. The father shows symptoms of hereditary motor and sensory neuropathy, while his daughter has symptoms of myotonic dystrophy. Detailed clinical manifestations in both cases are described.