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Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course
Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) is caused by homozygous or compound heterozygous mutation in the MEGF10 gene (OMIM #614399). Phenotypic spectrum of EMARDD is variable, ranging from severe infantile forms in which patients are ventilator-dependent and die...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Pacini Editore Srl
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9628799/ https://www.ncbi.nlm.nih.gov/pubmed/36349186 http://dx.doi.org/10.36185/2532-1900-076 |