Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report
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DOI: 10.1186/s12881-020-01016-y
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… read more here.
Keywords: iranian family; extrapyramidal signs; family; myopathy extrapyramidal ... See more keywords