Neurological Sciences

, Volume 39, Issue 2, pp 333–339 | Cite as

MYH7 mutation associated with two phenotypes of myopathy

  • Nan Li
  • Zhe Zhao
  • Hongrui Shen
  • Qi Bing
  • Xuan Guo
  • Jing Hu
Original Article


The mutations of MYH7 (slow skeletal/β-cardiac myosin heavy chain) are commonly found in familial hypertrophic/dilated cardiomyopathy, and also can cause Laing early-onset distal myopathy (LDM), myosin storage myopathy (MSM), and congenital myopathy with fiber-type disproportion (CFTD). Here we report two cases whose diagnosis was hereditary myopathy according to clinical feature and muscle pathology analysis. High-throughput genomic sequencing (next generation sequencing) was performed to validate the diagnosis. Two MYH7 mutations, p.R1845W and p.E1687del, were identified. p.R1845W was found in a male patient showing weakness of both terminal lower legs without foot drop. Muscle pathology stainings characteristically showed the hyaline body in the intracytoplasmic location. The novel mutation p.E1687del was found in a family with seven patients. The proband showed foot drop, scoliosis, and winged scapula, while his mother only showed mild foot drop and winged scapula. Muscle pathology analysis showed congenital centronucleus myopathy. Both cases only showed muscular disorder and had no cardiomyopathy. This study, for the first time, reports the MYH7 mutations associated with centronucleus myopathy.


MYH7 Myopathy Muscle Pathogenesis Next generation sequencing (NGS) 



We wish to thank the people with myopathy who participated in this study.

Compliance with ethical standards

The study was approved by the Ethical Committee of the Third Hospital of Hebei Medical University and was conducted in accordance with the Declaration of Helsinki.

Conflict of interest

The authors declare that there is no conflict of interest.


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Copyright information

© Springer-Verlag Italia S.r.l., part of Springer Nature 2017

Authors and Affiliations

  1. 1.Department of Neuromuscular DisordersThe Third Hospital of Hebei Medical UniversityShijiazhuangChina

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