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Article

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

Journal of neuropathology and experimental neurology - 1 May 2014

Meilleur Katherine G, Zukosky Kristen, Medne Livija, Fequiere Pierre, Powell-Hamilton Nina, Winder Thomas L, Alsaman Abdulaziz, El-Hattab Ayman W, Dastgir Jahannaz, Hu Ying, Donkervoort Sandra, Golden Jeffrey A, Eagle Ralph, Finkel Richard, Scavina Mena, Hood Ian C, Rorke-Adams Lucy B, Bönnemann Carsten G

Abstract excerpt

Dystroglycanopathies are a subtype of congenital muscular dystrophy of varying severity that can affect the brain and eyes, ranging from Walker-Warburg syndrome with severe brain malformation to milder congenital muscular dystrophy presentations with affected or normal cognition and later onset. Mutations in dystroglycanopathy genes affect a specific glycoepitope on α-dystroglycan; of the 14 genes implicated to...

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PMID: 24709677
DOI: 10.1097/NEN.0000000000000065
PMCID: PMC5113964

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Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.PMID 24709677Read ↗

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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.Semantic proximity Read ↗

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.Semantic proximity Read ↗

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