Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report

Background: Congenital myopathies are a diverse group of diseases that share features from the early onset of symptoms in the first year of life, such as hypotonia, muscle weakness, and developmental delays, and are often associated with respiratory insufficiency and feeding difficulties. Case prese...

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Detalhes bibliográficos

Principais autores:	Rana Almutairi, Sara Alrashidi, Muhammed Umair, Maha Alshalan, Lamia Alsubaie, Taghrid Aloraini, Ahmed Al Ahmad, Ahmed Alfares, Fuad Al Mutairi
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Discover STM Publishing Ltd 2020-06-01
coleção:	Journal of Biochemical and Clinical Genetics
Assuntos:	congenital myopathy fhl1 hypotonia congenital fiber-type disproportion myopathy and x-linked myopathy
Acesso em linha:	http://www.ejmanager.com/fulltextpdf.php?mno=96509
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