A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.

@article{Zheng2017ANM,
  title={A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.},
  author={Junjun Zheng and Shuyun Chen and Yunqing Chen and Min Zhu and Daojun Hong},
  journal={Neuropathology : official journal of the Japanese Society of Neuropathology},
  year={2017},
  volume={37 1},
  pages={45-51}
}
Mutations in the LDB3 gene have been identified in patients with Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP)-related myofibrillar myopathy (ZASP-MFM) characterized by late-onset distal myopathy with signs of cardiomyopathy and neuropathy. We describe an autosomal dominant inherited pedigree with ZASP-MFM that is in line with the typical phenotype of distal myopathy without cardiomyopathy and neuropathy, while mild asymmetrical muscle atrophy can be observed in… CONTINUE READING