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Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy

  • S. Cai
  • , M. Gao
  • , J. Xi
  • , Z. Liu
  • , D. Yue
  • , H. Wu
  • , H. Bi
  • , J. Li
  • , Z. Liang
  • , C. Zhao
  • , B. Udd
  • , S. Luo
  • , J. Lu

    Research output: Contribution to journalArticleScientificpeer-review

    10 Citations (Scopus)
    Original languageEnglish
    Pages (from-to)628-633
    JournalNeuromuscular Disorders
    Volume29
    Issue number8
    DOIs
    Publication statusPublished - 2019
    Publication typeA1 Journal article-refereed

    Keywords

    • Anoctaminopathy
    • Limb girdle muscular dystrophy
    • Muscle MRI
    • Mutation
    • Presymptomatic hyperCKemia

    Publication forum classification

    • Publication forum level 1

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