A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2146
Abstract: Pathogenic variants of ATP1A2 (OMIM ID: 182340) are usually associated with familial hemiplegic migraine type 2 (FHM‐2), alternating hemiplegia of childhood (AHC), early infantile epileptic encephalopathy (EIEE), transient cytotoxic edema, and so on. Here, we… read more here.
Keywords: novel heterozygous; alternating hemiplegia; heterozygous atp1a2; melas like ... See more keywords
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddx314
Abstract: Abstract Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-onset and tissue-specific deficiency of one or more OXPHOS complexes. Here, we report a 7-year-old Italian boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like… read more here.
Keywords: rrna; causes melas; mrm2 causes; melas like ... See more keywords