Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family

The identification of the m.12207G > A variant in MT-TS2, (NC_012920.1:m.12207G > A) was first reported in 2006. The affected individual presented with developmental delay, feeding difficulty, proximal muscle weakness, and lesions within her basal ganglia, with heteroplasmy levels of 92% in mu...

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Detalles Bibliográficos
Autores principales: Suzuki-Ajihara, Sayaka, Saito-Tsuruoka, Megumi, Harashima, Hiroko, Arai, Katsumi, Koide, Hiroyoshi, Yatsuka, Yukiko, Imai-Okazaki, Atsuko, Okazaki, Yasushi, Murayama, Kei, Numakura, Chikahiko, Akioka, Yuko, Ohtake, Akira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10034148/
https://www.ncbi.nlm.nih.gov/pubmed/36967720
http://dx.doi.org/10.1016/j.ymgmr.2023.100966

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