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Article

Milder forms of muscular dystrophy associated with POMGNT2 mutations

1 Dec 2015

Abstract excerpt

OBJECTIVE: To determine the genetic variants in patients with dystroglycanopathy (DGP) and assess the pathogenicity of these variants. METHODS: A total of 20 patients with DGP were identified by immunohistochemistry or Western blot analysis. Whole-exome sequencing (WES) was performed using patient samples. The pathogenicity of the variants identified was evaluated on the basis of the phenotypic recovery in a...

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PMID: 27066570
DOI: 10.1212/nxg.0000000000000033

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