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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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Discover STM Publishing Ltd
2019-12-01
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| Col·lecció: | Journal of Biochemical and Clinical Genetics |
| Matèries: | |
| Accés en línia: | http://www.ejmanager.com/fulltextpdf.php?mno=62839 |
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