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Additional file 1 of Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family

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posted on 2021-05-10, 03:11 authored by Fatemeh Bitarafan, Mehrnoosh Khodaeian, Elham Amjadi Sardehaei, Fatemeh Zahra Darvishi, Navid Almadani, Yalda Nilipour, Masoud Garshasbi
Additional file 1. Previous studies presented with the vast spectrum of symptoms.

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    Molecular and Cellular Pediatrics

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    Keywords

    Ca2+Mitochondrial calcium uptake 1 (MICU1)Myopathy with extrapyramidal signs (MPXPS)Whole exome sequencing (WES)

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