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

• Main Authors: Marzieh Mojbafan (Author), Somayeh Takrim Nojehdeh (Author), Faezeh Rahiminejad (Author), Yalda Nilipour (Author), Seyed Hasan Tonekaboni (Author), Sirous Zeinali (Author)
• Format: Book
• Published: BMC, 2020-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 ident...