Fukuyama Congenital Muscular Dystrophy in a Young Infant

@article{2015FukuyamaCM,
  title={Fukuyama Congenital Muscular Dystrophy in a Young Infant},
  author={이해정 and 이인설 and Jong Hee Chae and Jun Hwa Lee},
  journal={Journal of the korean child neurology society},
  year={2015},
  volume={23},
  pages={23-26}
}
Fukuyama 선천성 근이영양증은 일본에서 흔히 발생하는 상염색체 열성 유전 질환으로서, 영아기에 발병하는 근긴장 저하와 발달 장애를 초래하는 것이 특징적인 임상 소견이다. 염색체 9q31에 위치한 fukutin gene의 돌연변이에 의한 α-dystroglycan의 글리코실화 반응 저하로 인해 근이영양증 및 눈과 뇌의 이상을 초래하는 것으로 알려져... 
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