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ENMuscular Dystrophy-Dystroglycanopathy , Type B, 5 (MDDGB5)
Alias:
Muscular Dystrophy-Dystroglycanopathy Type B5
Mdc1c
Mddgb5
Muscular Dystrophy, Congenital, 1c
Muscular Dystrophy-Dystroglycanopathy Congenital with or Without Impaired Intellectual Development B5
Dystrophy, Muscular, Dystroglycanopathy , Type B6
Muscular Dystrophy, Congenital, Fkrp-Related
Fkrp-Related Congenital Muscular Dystrophy
Muscular Dystrophy Congenital Type 1c
Congenital Muscular Dystrophy 1c
Muscular Dystrophy Fkrp-Related
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Muscular Dystrophy-Dystroglycanopathy , Type B, 5, also known as muscular dystrophy-dystroglycanopathy type b5, is related to polymicrogyria and muscular dystrophy-dystroglycanopathy , type a, 1, and has symptoms including muscle cramp, myalgia and facial paresis. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5 is FKRP (Fukutin Related Protein), and among its related pathways/superpathways are Metabolism of proteins and Diseases of glycosylation. Affiliated tissues include brain and skeletal muscle, and related phenotypes are ventriculomegaly and pachygyria
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