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

doi:10.1186/s12920-026-02357-y

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

BMC medical genomics - 6 Apr 2026

Zhang Zhehuan, Xu Suzhen, Wu Tianchen, Xu Wenwen, Wu Bingbing, Yang Chenhao

Abstract excerpt

BACKGROUND: Classic Homocystinuria (HCU) is the second most treatable aminoacidopathy. It affects multiple organs in varying degrees, and early recognition and treatment is crucial to improve the prognosis. Mutations in the CBS gene result in classic HCU, the most common form. Genetic testing is important for the accurate diagnosis of this severe disorder. METHOD: Case report. RESULT: A 6-year-old boy presented...

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PMID: 41943097
DOI: 10.1186/s12920-026-02357-y
PMCID: PMC13188716

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