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

@article{Fu2016FKRPMI,
  title={FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies},
  author={Xiaona Fu and Haipo Yang and Cuijie Wei and Hui Jiao and Shuo Wang and Yan-ling Yang and Chunxi Han and Xi-ru Wu and Hui Xiong},
  journal={Journal of Human Genetics},
  year={2016},
  volume={61},
  pages={1013-1020}
}
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 with limb girdle muscular dystrophy type 2I (LGMD2I). Three muscle biopsy specimens… CONTINUE READING
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