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LARGE


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A glycosyltransferase (756 aa) that is required for normal glycosylation of dystroglycan. Defects in the LARGE gene, or that for dystroglycan, cause abnormal neuronal migration. Mutations in LARGE can cause congenital muscular dystrophy type 1D (MDC1D) and Walker–Warburg syndrome.

Subjects: Medicine and Health.


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