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Article

Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene.

JAMA neurology - 1 May 2013

Lee Sang-Soo, Lee Hye Jin, Park Jin-Mo, Hong Young Bin, Park Kee-Duk, Yoo Jeong Hyun, Koo Heasoo, Jung Sung-Chul, Park Hyung Soon, Lee Ji Hyun, Lee Min Goo, Hyun Young Se, Nakhro Khriezhanou, Chung Ki Wha, Choi Byung-Ok

Abstract excerpt

IMPORTANCE: 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. OBJECTIVES: To identify the genetic cause of HMSN-P in a Korean family and determine the pathogenic mechanism. DESIGN:...

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Source

Identifiers

PMID: 23553329
DOI: 10.1001/jamaneurol.2013.1250

Genes

TFG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene.PMID 23553329Read ↗

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

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