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Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.
Am J Med Genet A. 2023 Jan;191(1):70-76. doi: 10.1002/ajmg.a.62988. Epub 2022 Oct 11.
Am J Med Genet A. 2023.
PMID: 36218002
Biallelic pathogenic variants in the TARS2 gene cause combined oxidative phosphorylation deficiency, subtype 21 (COXPD21, MIM #615918), which is a rare mitochondrial encephalomyopathy (ME) characterized by early-onset severe axial hypotonia, limb hypertonia, delayed …
Biallelic pathogenic variants in the TARS2 gene cause combined oxidative phosphorylation deficiency, subtype 21 (COXPD21, MIM #615918), whic …
SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature.
Molaei Ramsheh S, Erfanian Omidvar M, Tabasinezhad M, Alipoor B, Salmani TA, Ghaedi H.
Molaei Ramsheh S, et al.
Mol Biol Rep. 2020 Dec;47(12):9699-9714. doi: 10.1007/s11033-020-05999-y. Epub 2020 Nov 23.
Mol Biol Rep. 2020.
PMID: 33230783
Review.
Here, we presented a 5-year-old boy with clinical features of mitochondrial encephalomyopathy from Iran. Also, a systematic review was performed to explore the involvement of SUCLG1 mutations in published mitochondrial encephalomyopathies cases. ...
Here, we presented a 5-year-old boy with clinical features of mitochondrial encephalomyopathy from Iran. Also, a systematic re …
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