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

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

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...

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Bibliographic Details
Main Authors: Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni, Sirous Zeinali
Format: Article
Language:English
Published: BMC 2020-04-01
Series:BMC Medical Genetics
Subjects:
Myopathy with extrapyramidal signs
MICU1 gene
Next generation sequencing
Autozygosity mapping
Online Access:http://link.springer.com/article/10.1186/s12881-020-01016-y

Internet

http://link.springer.com/article/10.1186/s12881-020-01016-y

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