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Keyword - Dystroglycanopathy (KW-1215)

Definition

Protein which, if defective, causes any of the muscular disorders caused by aberrant glycosylation of dystroglycan. These genetically heterogeneous diseases include a range of conditions with different degrees of severity. At the most severe end of the clinical spectrum, Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD) are characterized by congenital muscular dystrophy and severe structural brain and eye abnormalities, which in WWS result in early infantile death. At the mildest end of the clinical spectrum, affected individuals present with limb girdle muscular dystrophy (LGMD), without brain and eye involvement.

Category

Disease

Graphical

DiseaseDystroglycanopathy
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