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Article

FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.

Journal of human genetics - 1 Dec 2016

Fu Xiaona, Yang Haipo, Wei Cuijie, Jiao Hui, Wang Shuo, Yang Yanling, Han Chunxi, Wu Xiru, Xiong Hui

Abstract excerpt

Mutations in the fukutin-related protein (FKRP) gene have been associated with dystroglycanopathies, which are common in Europe but rare in Asia. Our study aimed to retrospectively analyze and characterize the clinical, myopathological and genetic features of 12 Chinese patients with FKRP mutations. Three patients were diagnosed with congenital muscular dystrophy type 1C (MDC1C) and nine patients were diagnosed...

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Identifiers

PMID: 27439679
DOI: 10.1038/jhg.2016.94

Genes

FKRP

Variants

Provenance

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