An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3′ untranslated region mutation in GJB1 and its clinical features-Reference-Cited by-同舟云学术

An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3′ untranslated region mutation in GJB1 and its clinical features

Published:2017-12-28 Issue:5 Volume:57 Page:859-862
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Chen Dong-Hui¹,Ma Maxwell¹²,Scavina Mena³,Blue Elizabeth⁴,Wolff John⁴⁵,Karna Prasanthi⁴,Dorschner Michael O.⁶⁷,Raskind Wendy H.⁴⁵,Bird Thomas D.¹⁴⁵

Affiliation:

1. Department of Neurology; University of Washington; Seattle Washington USA

2. Neurology Section; VA Puget Sound Health Care System; Seattle Washington USA

3. Nemours/Alfred I. duPont Hospital for Children; Wilmington Delaware USA

4. Department of Medicine (Medical Genetics); University of Washington; Seattle Washington USA

5. Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System; South Columbian Way, S-182-GRECC, Seattle Washington 98108 USA

6. Center for Precision Diagnostics; University of Washington; Seattle Washington USA

7. Department of Pathology; University of Washington; Seattle Washington USA

Funder

Veterans Affairs research funds

National Institutes of Health

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Reference16 articles.

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2. Muscular atrophy of the peroneal type affecting many members of a family;Harringham;Brain,1888

3. Connexin mutations in X-linked Charcot-Marie-Tooth disease;Bergoffen;Science,1993

4. A review of X-linked Charcot-Marie-Tooth disease;Wang;J Child Neurol,2016

5. Clinical and genetic features of Chinese X-linked Charot-Marie-Tooth type 1 disease;Lu;Chinese Med J,2017

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