A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure-Reference-Cited by-同舟云学术

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A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure

Published:2017-06 Issue: Volume:7 Page:1-7
ISSN:2214-6474
Container-title:BBA Clinical
language:en
Short-container-title:BBA Clinical

Author:

Fichna Jakub P.,Potulska-Chromik Anna,Miszta Przemysław,Redowicz Maria Jolanta,Kaminska Anna M.,Zekanowski Cezary,Filipek Sławomir

Funder

National Science Centre, Poland

Ministry of Science and Higher Education

European Regional Development Fund

Publisher

Elsevier BV

Subject

Physiology (medical),Molecular Medicine,Pathology and Forensic Medicine

Reference53 articles.

1. Myofibrillar myopathies: new developments;Olivé;Opin. Neurol.,2013

2. Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation;Pruszczyk;Int. J. Cardiol.,2007

3. Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αβ-crystallinopathies;van der Smagt;Clin. Genet.,2014

4. Myofibrillar myopathies: a clinical and myopathological guide;Schröder;Brain Pathol.,2009

5. Myofibrillar myopathies: state of the art, present and future challenges;Béhin;Rev. Neurol. (Paris),2015

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