Congenital muscular dystrophy type 1D large gene mutation (Q103689)

Congenital muscular dystrophy characterised by abnormality in the glycosylation of the alpha-dystroglycan that correlates with an increasingly severe pattern of tissue effects, extending from an adult-onset limb-girdle muscular dystrophy with normal intelligence (LGMD type 2I) to severe congenital brain and eye malformations (Walker–Warburg syndrome). Congenital muscular dystrophy type 1D due to mutations in LARGE is the rarest of the alpha-dystroglycanopathies identified to date. Affected children have typical neurological and muscle abnormalities associated with the alpha-dystroglycanopathies, but with very different severities.