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The first report of primary hypotonia with abnormal electromyogram and CBS mutation in a Chinese child

Zhehuan Zhang1, Suzhen Xu2, Tianchen Wu1

  • 1Department of Ophthalmology, National Children's Medical Center-Shanghai, Children's Hospital of Fudan University, Shanghai, China.

BMC Medical Genomics
|April 6, 2026
PubMed
Abstract

No abstract available in PubMed .

Keywords:
CBS geneGenetic mutationHomocysteineHomocystinuriaHypotonia

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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