The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.

doi:10.1016/j.ajhg.2012.07.014

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Article

The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.

American journal of human genetics - 10 Aug 2012

Ishiura Hiroyuki, Sako Wataru, Yoshida Mari, Kawarai Toshitaka, Tanabe Osamu, Goto Jun, Takahashi Yuji, Date Hidetoshi, Mitsui Jun, Ahsan Budrul, Ichikawa Yaeko, Iwata Atsushi, Yoshino Hiide, Izumi Yuishin, Fujita Koji, Maeda Kouji, Goto Satoshi, Koizumi Hidetaka, Morigaki Ryoma, Ikemura Masako, Yamauchi Naoko, Murayama Shigeo, Nicholson Garth A, Ito Hidefumi, Sobue Gen, Nakagawa Masanori, Kaji Ryuji, Tsuji Shoji

Abstract excerpt

Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affected by HMSN-P have been reported from two different regions in Japan. Linkage and haplotype analyses of two...

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PMID: 22883144
DOI: 10.1016/j.ajhg.2012.07.014
PMCID: PMC3415534

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