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: | , , , , , , , , |
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Format: | Article |
Language: | Russian |
Published: |
ABV-press
2019-11-01
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Series: | Нервно-мышечные болезни |
Subjects: | |
Online Access: | https://nmb.abvpress.ru/jour/article/view/345 |