A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy-Reference-Cited by-同舟云学术

A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

Published:2015-09-02 Issue:3 Volume:2 Page:219-227
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

Malfatti Edoardo¹²,Böhm Johann³⁴⁵⁶,Lacène Emmanuelle¹²⁷,Beuvin Maud¹²,Guy Brochier ¹²⁷,Romero Norma B.¹²⁷,Laporte Jocelyn³⁴⁵⁶

Affiliation:

1. Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l’hôpital, 75013 Paris, France

2. Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière; Paris, France

3. Department of Translational Medecine, IGBMC, Illkirch, France

4. INSERM U964, Illkirch, France

5. CNRS, UMR7104, Illkirch, France

6. Strasbourg University, Illkirch, France

7. Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris; Paris, France

Publisher

IOS Press

Subject

Neurology (clinical),Neurology

Reference27 articles.

1. Congenital myopathies;Romero;Handb Clin Neurol,2013

2. Congenital myopathies: An update;Nance;Curr Neurol Neurosci Re,2012

3. Muscle histopathology in nebulin-related nemaline myopathy: Ultrastrastructural findings correlated to disease severity and genotype;Malfatti;Acta Neuropathol Commun,2014

4. Recent advances in nemaline myopathy;Romero;Curr Opin Neurol,2013

5. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy;Nowak;Nat Genet,1999

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