Compound heterozygous mutations in MICU1 cause myopathy with extrapyramidal signs in two Chinese pedigrees
The phenotypic variations between the sibling pairs across both pedigrees may indicate age-dependent disease progression. The four children in this study with MPXPS due to compound heterozygous mutations in the <i>MICU1</i> gene showed phenotypic differences compared to previously reported MPXPS cases, indicating a positive correlation between <i>MICU1</i> loss of function and the severity of the phenotype, demonstrating a clear genotype-phenotype correlation.
Authors
- Xiaoming Gan
- Hu Liu (ORCID: https://orcid.org/0000-0002-3952-4165)
- Jieling Li (ORCID: https://orcid.org/0000-0001-5561-4104)
- Jie Cao (ORCID: https://orcid.org/0000-0001-9803-3836)
- Yuexu Ou
- Yuanhui Duan (ORCID: https://orcid.org/0000-0002-5564-4394)
Institutions
- China International Science and Technology Cooperation (CN)
- Children's Hospital of Chongqing Medical University (CN)
- Chongqing Medical University (CN)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2025-09-12
- DOI
- https://doi.org/10.3389/fneur.2025.1624830
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00