Open AccessInfantile 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
Author(s) -
S. V. Kurbatov,
П Г Цыганкова,
К. Ю. Моллаева,
Igor Bychkov,
Ю. С. Иткис,
В. В. Забненкова,
Zoya R. Umakhanova,
Л. Г. Гейбатова,
Е. Ю. Захарова
Publication year - 2019
Publication title -
nervno-myšečnye bolezni
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 3
eISSN - 2413-0443
pISSN - 2222-8721
DOI - 10.17650/2222-8721-2019-9-3-57-76
Subject(s) - spinal muscular atrophy , myopathy , differential diagnosis , medicine , atrophy , pathology , mitochondrial myopathy , neuromuscular disease , mitochondrial disease , congenital myopathy , gene mutation , mitochondrial dna , disease , mutation , bioinformatics , genetics , gene , biology , biopsy , muscle biopsy