Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.

@article{Majczenko2012DominantMO,
  title={Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.},
  author={Karen Majczenko and Ann E. Davidson and Sandra Ines Camelo-Piragua and Pankaj B Agrawal and Richard A Manfready and Xingli Li and Sucheta Joshi and Jishu Xu and Weiping Peng and Alan H. Beggs and Jun Z. Li and Margit Burmeister and James J Dowling},
  journal={American journal of human genetics},
  year={2012},
  volume={91 2},
  pages={365-71}
}
Congenital myopathies are clinically and genetically heterogeneous diseases that typically present in childhood with hypotonia and weakness and are most commonly defined by changes observed in muscle biopsy. Approximately 40% of congenital myopathies are currently genetically unresolved. We identified a family with dominantly inherited congenital myopathy characterized by distal weakness and biopsy changes that included core-like areas and increased internalized nuclei. To identify the… CONTINUE READING
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