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...
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: | |
Online Access: | https://nmb.abvpress.ru/jour/article/view/345 |
Similar Items
-
Experience of Nusinersen in children with proximal spinal muscular atrophy 5q in Moscow region
by: M. V. Panteleeva
Published: (2022-12-01) -
Spinal and bulbar muscular atrophy with pseudomyotonia phenomena: a clinical case report
by: S. S. Nikitin, et al.
Published: (2020-01-01) -
Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects
by: I. S. Tebieva, et al.
Published: (2022-06-01) -
Spinal Muscular Atrophy 5q under the Mask of Myopathy: 10 Clinical Cases
by: Sergei A. Kurbatov
Published: (2021-12-01) -
Spinal muscular atrophy type 2: efficacy of risdiplam in a 7-year-old child
by: T. A. Kryuchkova, et al.
Published: (2022-08-01)