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A novel homozygous exon2 deletion of TRIM32 gene in a Chinese patient with sarcotubular myopathy: A case report and literature review
Sarcotubular myopathy (STM) is a rare autosomal recessive myopathy caused by TRIM32 gene mutations. It is predominantly characterized by the weakness of the proximal limb and mild to moderate elevation of creatine kinase levels. In this study, we describe a 50-year-old Chinese man who exhibited a pr...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8292861/ https://www.ncbi.nlm.nih.gov/pubmed/33485293 http://dx.doi.org/10.17305/bjbms.2020.5288 |