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

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Cell Pediatr
Prif Awduron: Bitarafan, Fatemeh, Khodaeian, Mehrnoosh, Amjadi Sardehaei, Elham, Darvishi, Fatemeh Zahra, Almadani, Navid, Nilipour, Yalda, Garshasbi, Masoud
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer Berlin Heidelberg 2021
Pynciau:
Case Study
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC8107061/
https://ncbi.nlm.nih.gov/pubmed/33969448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40348-021-00116-w
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