Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Congenital Muscular Dystrophy-Dystroglycanopathy Type A1(来自ICD-11)

别称:

Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A1

Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related

Mddga1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Muscular Dystrophy-Dystroglycanopathy Type A1, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a1, is related to muscular dystrophy-dystroglycanopathy , type a, 1 and muscular dystrophy-dystroglycanopathy , type c, 1. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Metabolism of proteins and Diseases of glycosylation. Affiliated tissues include eye and brain, and related phenotypes are nervous system and muscle

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