Congenital muscular dystrophy a case study with a mutation in the POMT1 gene

Background: The congenital muscular dystrophies (CMD) are a group of heterogeneous diseases, manifested with a wide variety of clinical findings. Dystroglycanopathy is regarded as a subgroup among the CMD group of diseases. POMT1 mutations that cause alpha-dystroglycan hypoglycolization are reported...

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Autores principales:	Muhsin Elmas, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, Mustafa Solak
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Discover STM Publishing Ltd 2019-12-01
Colección:	Journal of Biochemical and Clinical Genetics
Materias:	muscular dystrophies; consanguinity developmental disabilities
Acceso en línea:	http://www.ejmanager.com/fulltextpdf.php?mno=62839
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