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

Malfatti, Edoardo; Böhm, Johann; Lacène, Emmanuelle; Beuvin, Maud; Romero, Norma B; Laporte, Jocelyn

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

Malfatti, Edoardo; Böhm, Johann; Lacène, Emmanuelle; Beuvin, Maud; Romero, Norma B; Laporte, Jocelyn.

Afiliação

Malfatti E; 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.
Böhm J; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière; Paris, France.
Lacène E; Department of Translational Medecine, IGBMC, Illkirch, France.
Beuvin M; INSERM U964, Illkirch, France.
Romero NB; CNRS, UMR7104, Illkirch, France.
Laporte J; Strasbourg University, Illkirch, France.

J Neuromuscul Dis ; 2(3): 219-227, 2015 Sep 02.

Article em En | MEDLINE | ID: mdl-27858739

Palavras-chave

Congenital myopathy; MYO18B; cardiomyopathy; myosin; nemaline myopathy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: J Neuromuscul Dis Ano de publicação: 2015 Tipo de documento: Article País de afiliação: França

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