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...

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Detalles Bibliográficos
Autores principales: Croci, Carolina, Traverso, Monica, Baratto, Serena, Iacomino, Michele, Pedemonte, Marina, Caroli, Francesco, Scala, Marcello, Bruno, Claudio, Fiorillo, Chiara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2022
Materias:
Original Article
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

Internet

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

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