A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot–Marie–Tooth disease type 2L-Reference-Cited by-同舟云学术

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A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot–Marie–Tooth disease type 2L

Published:2013-08 Issue:8 Volume:23 Page:656-663
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Nakhro Khriezhanuo,Park Jin-Mo,Kim Ye Jin,Yoon Bo Ram,Yoo Jeong Hyun,Koo Heasoo,Choi Byung-Ok,Chung Ki Wha

Funder

Korean Health Technology R&D Project, Ministry of Health & Welfare

National Research Foundation (NRF)

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference27 articles.

1. The clinical features of hereditary motor and sensory neuropathy types I and II;Harding;Brain,1980

2. The distal hereditary motor neuropathies;Rossor;J Neurol Neurosurg Psychiatry,2012

3. Small heat-shock protein 22 mutated in autosomal dominant Charcot–Marie–Tooth disease type 2L;Tang;Hum Genet,2005

4. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy;Irobi;Nat Genet,2004

5. Site-directed mutations within the core ‘alpha-crystallin’ domain of the small heat-shock protein, human alpha B-crystallin, decrease molecular chaperone functions;Muchowski;J Mol Biol,1999

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