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MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review

Journal of Human Genetics volume 70, pages 655–659 (2025)Cite this article

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Abstract

MYH2-associated myopathy is a group of congenital heterogeneous diseases. Case reports with MYH2-associated myopathy due to compound heterozygous mutations are rare. We report a 63-year-old Asian female who presented with bilateral ptosis and limb weakness for over 10 years. The orbits magnetic resonance imaging showed no abnormalities. Muscle biopsy revealed characteristics consistent with congenital neuromuscular disease with uniform type 1 fibers. Genetic testing identified compound heterozygous mutations in the MYH2 gene: a heterozygous mutation in exon 30, c.4066G>T (chr17:10430037, p.E1356X) and a heterozygous mutation in exon 38, c.5473-1G>A (chr17:10426730, splicing). The novel gene mutations are considered potential pathogenic variants. MYH2-associated myopathy was diagnosed. Following treatment with cytidine diphosphate choline, coenzyme Q10, methylcobalamin, and idebenone, her ocular symptoms showed slight improvement before discharge. This case highlights the importance of genetic testing in diagnosing rare myopathies and expands the genetic spectrum of MYH2-associated myopathy.

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Fig. 1: Pathological findings of muscle biopsy from the left deltoid muscle.

Data availability

The data supporting this study’s findings are available from the corresponding author [Lu Guo] upon reasonable request.

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Acknowledgements

This work is supported by the Key Clinical Specialty of Neurology of PLA to Daping Hospital.

Funding

This study was supported by the Natural Science Foundation Project of CQ CSTC (cstc2019jscx-msxmX0285) and the Natural Science Foundation Project of Chongqing (CSTB2022NSCQ-MSX1585).

Author information

Author notes

  1. These authors contributed equally: Yulai Kang, Tong Yang, Xue Chen.

Authors and Affiliations

  1. Department of Internal Medicine, No. 93285 Hospital of PLA, Jilin, China

    Yulai Kang

  2. Air Force Medical Center, Air Force Medical University, Beijing, China

    Tong Yang

  3. Department of Rheumatology and Clinical Immunology, Daping Hospital, Army Medical Center of PLA, Army Medical University, Chongqing, China

    Xue Chen

  4. Department of Neurology and Centre for Clinical Neuroscience, Daping Hospital, Army Medical Centre of PLA, Army Medical University, Chongqing, China

    Zhuo Min, Chunhua Tang, Lili Zhang & Lu Guo

Authors
  1. Yulai Kang
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  2. Tong Yang
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  3. Xue Chen
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  4. Zhuo Min
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  5. Chunhua Tang
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  6. Lili Zhang
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  7. Lu Guo
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Contributions

Yulai Kang, Tong Yang and Xue Chen wrote the manuscript. Zhuo Min and Chunhua Tang diagnosed, treated, and followed the patient. Lili Zhang and Lu Guo conceived the study and revised it critically for important intellectual content. All authors read and approved the final version of the manuscript.

Corresponding authors

Correspondence to Lili Zhang or Lu Guo.

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The authors declare no competing interests.

Ethics approval and consent to participate

This study was exempted from ethical applications by the ethics committee of the Army Medical Centre of PLA. Written informed consent was obtained from the patient.

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Kang, Y., Yang, T., Chen, X. et al. MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review. J Hum Genet 70, 655–659 (2025). https://doi.org/10.1038/s10038-025-01400-7

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