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Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient
DNAJB6 was identified as the causative gene of limb-girdle muscular dystrophy type 1D. In recent years, the phenotypic and molecular spectrum of DNAJB6-myopathy has been expanded, and several mutations of DNAJB6 have been identified in Europe, North America, and Asia. Interestingly, almost all ident...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259785/ https://www.ncbi.nlm.nih.gov/pubmed/35812750 http://dx.doi.org/10.3389/fgene.2022.925926 |