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A family with both X‐linked dominant Charcot–Marie–Tooth disease and myotonic dystrophy type 1 mutations with phenotypic variations
Author(s) -
Mori Chiaki,
Nakatani Rie,
Nakamori Masayuki,
Matsumura Tsuyoshi,
Takahashi Masanori P.,
Fujimura Harutoshi,
Mochizuki Hideki,
Sakoda Saburo
Publication year - 2019
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.12251
Subject(s) - myotonic dystrophy , tooth disease , medicine , disease , genetics , phenotype , daughter , hereditary motor and sensory neuropathy , myotonia , gene , pathology , biology , evolutionary biology
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.