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

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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Bibliographic Details
Main Authors: Muhsin Elmas, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, Mustafa Solak
Format: Article
Language:English
Published: Discover STM Publishing Ltd 2019-12-01
Series:Journal of Biochemical and Clinical Genetics
Subjects:
muscular dystrophies; consanguinity
developmental disabilities
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=62839

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