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J Int Med Res. 2019 Aug 20:300060519862064. doi: 10.1177/0300060519862064. [Epub ahead of print]

Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F.

Author information

1
1 Neurology Department, Beijing Hospital, National Center of Gerontology, Beijing 100730, P. R. China.
2
2 Clinical Laboratory of Zhongke, Beijing 102200, P. R. China.

KEYWORDS:

Charcot–Marie–Tooth disease; c.1174C>T (p.R392X); cerebrospinal protein; muscle atrophy; periaxin; sensory ataxia

PMID:
31426691
DOI:
10.1177/0300060519862064

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