Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature

INTRODUCTION: Nemaline myopathy is a rare genetic muscle disorder defined by the presence of nemaline rods in the muscle fibre sarcoplasm. Congenital nemaline myopathy is the most serious form of the disease’s spectrum. CASE PRESENTATION: The affected newborn has no spontaneous movement, fractures a...

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Detalles Bibliográficos
Autores principales: Waisayarat, Jariya, Suriyonplengsaeng, Chinnawut, Khongkhatithum, Chaiyos, Rochanawutanon, Mana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404293/
https://www.ncbi.nlm.nih.gov/pubmed/25890230
http://dx.doi.org/10.1186/s13000-015-0270-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404293/
https://www.ncbi.nlm.nih.gov/pubmed/25890230
http://dx.doi.org/10.1186/s13000-015-0270-8

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