Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia

Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia

Introduction. Mitochondrial myopathy with thymidine kinase 2 deficiency and spinal muscular atrophy 5q (SMA-5q) are two potentially curable hereditary diseases with different levels of damage to the neuromuscular system and etiology. Early childhood forms have a similar phenotype and are difficult f...

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Bibliographic Details
Main Authors: S. A. Kurbatov, P. G. Tsygankova, K. Yu. Mollaeva, I. O. Bychkov, Yu. S. Itkis, V. V. Zabnenkova, Z. R. Umakhanova, L. G. Geybatova, E. Yu. Zakharova
Format: Article
Language:Russian
Published: ABV-press 2019-11-01
Series:Нервно-мышечные болезни
Subjects:
thymidine kinase 2
mitochondrial myopathy
spinal muscular atrophy
magnetic resonance imaging
mtdna depletion
Online Access:https://nmb.abvpress.ru/jour/article/view/345
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