Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report

BACKGROUND: Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive mitochondrial disorder which is caused by mutation in mitochondrial calcium uptake 1 (MICU1) gene located on chromosome 10q22.1. Next Generation Sequencing (NGS) technology is the most effective method for identificatio...

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Detalles Bibliográficos
Autores principales: Mojbafan, Marzieh, Nojehdeh, Somayeh Takrim, Rahiminejad, Faezeh, Nilipour, Yalda, Tonekaboni, Seyed Hasan, Zeinali, Sirous
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158096/
https://www.ncbi.nlm.nih.gov/pubmed/32293312
http://dx.doi.org/10.1186/s12881-020-01016-y

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