A clinical case in pediatric practice: mitochondrial DNA depletion syndrome, type 2 (myopathic form)

The paper discusses the diagnosis and treatment of mitochondrial DNA depletion syndrome (MDS), which is associated with a defect in the thymidine kinase 2 (TK2) gene. Despite the expansion of neonatal screening (up to 36 diseases, with plans to increase it to 62), the detection of MDS requires expen...

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Detalhes bibliográficos

Principais autores:	A. V. Batyarkina, B. S. Roy, N. A. Dorokhov, D. G. Polukhin, D. V. Osintsev, D. O. Akhmetzhanova
Formato:	Artigo
Idioma:	Russo
Publicado em:	Yakut Science Center of Complex Medical Problems 2026-06-01
Colecção:	Якутский медицинский журнал
Assuntos:	митохондриальная миопатия ген тк2 тимидин дезоксицитидин синдром истощения митохондриальной днк
Acesso em linha:	https://ymj.elpub.ru/jour/article/view/3336
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