Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease

Author:

Soong Bing-Wen,Huang Yen-Hua,Tsai Pei-Chien,Huang Chien-Chang,Pan Hung-Chuan,Lu Yi-Chun,Chien Hsin-Ju,Liu Tze-Tze,Chang Ming-Hong,Lin Kon-Ping,Tu Pang-Hsien,Kao Lung-Sen,Lee Yi-Chung

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference32 articles.

1. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing;Murphy;J. Neurol. Neurosurg. Psychiatry,2012

2. Charcot-Marie-Tooth disease subtypes and genetic testing strategies;Saporta;Ann. Neurol.,2011

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

4. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification;Davis;J. Genet. Hum.,1978

5. Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1;Verhoeven;Am. J. Hum. Genet.,2001

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