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Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review
BACKGROUND: Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Since the discovery of the SPEG gene and disease-causing variants, only a few additional patients have been reported. CASE PRESENTATION: The child,...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8082920/ https://www.ncbi.nlm.nih.gov/pubmed/33926407 http://dx.doi.org/10.1186/s12887-021-02656-6 |