Open AccessProximal Dominant Hereditary Motor and Sensory Neuropathy With Proximal Dominance Association With Mutation in the TRK-Fused Gene
Author(s) -
Sang-Soo Lee,
Hye Jin Lee,
Jin-Mo Park,
Young Bin Hong,
Kee-Duk Park,
Jeong Hyun Yoo,
Heasoo Koo,
SungChul Jung,
Hyung Soon Park,
Ji Hyun Lee,
Min Goo Lee,
Young Se Hyun,
Khriezhanou Nakhro,
Ki Wha Chung,
ByungOk Choi
Publication year - 2013
Publication title -
jama neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.298
H-Index - 231
eISSN - 2168-6157
pISSN - 2168-6149
DOI - 10.1001/jamaneurol.2013.1250
Subject(s) - hereditary motor and sensory neuropathy , medicine , sural nerve , pathology , sensory nerve , dominance (genetics) , exome sequencing , exome , genetics , disease , mutation , gene , biology , neuroscience , sensory system
Hereditary motor and sensory neuropathy with proximal dominance (HMSN-P) has been reported as a rare type of autosomal dominant adult-onset Charcot-Marie-Tooth disease. HMSN-P has been described only in Japanese descendants since 1997, and the causative gene has not been found.
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