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

• Published in: Molecular and cellular pediatrics Vol. 8; no. 1; p. 6
• Main Authors: Bitarafan, Fatemeh, Khodaeian, Mehrnoosh, Amjadi Sardehaei, Elham, Darvishi, Fatemeh Zahra, Almadani, Navid, Nilipour, Yalda, Garshasbi, Masoud
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 09.05.2021; Springer Nature B.V
• Subjects: Apoptosis; Ataxia; Calcium (mitochondrial); Calcium influx; Calcium signalling; Case Study; Cell cycle; Cell death; Cell differentiation; Cell proliferation; Creatine; Creatine kinase; Diabetes; Disease; Endocrinology; Extrapyramidal system; Gait; Kinases; L-Lactate dehydrogenase; Lactic acid; Medicine; Medicine & Public Health; Mitochondria; Movement disorders; Mutation; Myopathy; Neuromuscular diseases; Oncology; Pediatrics; Reactive oxygen species; Reflexes; Mitochondrial calcium uptake 1 (MICU1); Ca; Myopathy with extrapyramidal signs (MPXPS); Whole exome sequencing (WES); Ca2

Background Ca 2+ as a universal second messenger regulates basic biological functions including cell cycle, cell proliferation, cell differentiation, and cell death. Lack of the protein mitochondrial calcium uptake1 (MICU1), which has been regarded as a gatekeeper of Ca ions, leads to the abnormal m...