Clinical case of infantile form of TK-2 associated myopathy, success of nucleoside therapy
https://doi.org/10.18705/2782-3806-2024-4-4-313-318
EDN: GQMIXC
Abstract
TK2-associated mitochondrial myopathy is a clinically heterogeneous autosomal recessive disease characterized by a predominantly myopathic phenotype with variable age of onset. There are 3 main clinical forms depending on the age of onset: infantile, childhood (juvenile) and late onset (adult). The article presents a description of a clinical case of a patient with an infantile form of the disease with a significant positive effect of pathogenetic therapy with nucleosides.
About the Authors
E. A. Mamaeva
Almazov National Medical Research Centre
Russian Federation
Russian Federation
Ekaterina A. Mamaeva, MD, neurologist
Saint Petersburg
I. N. Artamonova
Almazov National Medical Research Centre
Russian Federation
Russian Federation
Irina N. Artamonova, MD, junior researcher
Institute of Perinatology and Pediatrics; Research Laboratory of Physiology and Pathology of Newborns
Saint Petersburg
N. A. Petrova
Almazov National Medical Research Centre
Russian Federation
Russian Federation
Natalia A. Petrova, MD, PhD, Associate Professor, Head of the Laboratory
Institute of Perinatology and Pediatrics; Research Laboratory of Physiology and
Pathology of Newborns
197341; Akkuratova str., 2; Saint Petersburg
N. Yu. Kolbina
Almazov National Medical Research Centre
Russian Federation
Russian Federation
Natalia Yu. Kolbina, MD, Head of the Department
Children’s Treatment and Rehabilitation Complex; Department of Pediatrics and Medical Rehabilitation
Saint Petersburg
T. M. Pervunina
Almazov National Medical Research Centre
Russian Federation
Russian Federation
Tatyana M. Pervunina, MD, Doctor of Medical Sciences, Associate Professor, Director of the Institute
Institute of Perinatology and Pediatrics
Saint Petersburg
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Review
For citations:
Mamaeva E.A., Artamonova I.N., Petrova N.A., Kolbina N.Yu., Pervunina T.M. Clinical case of infantile form of TK-2 associated myopathy, success of nucleoside therapy. Russian Journal for Personalized Medicine. 2024;4(4):313-318. (In Russ.) https://doi.org/10.18705/2782-3806-2024-4-4-313-318. EDN: GQMIXC
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