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

by 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
Published 2019-11-01

The clinical case of limb-girdle muscle dystrophy 2Q associated with myasthenic syndrome and lung damage

by S. N. Bardakov, R. V. Deev, M. O. Mavlikeev, Z. R. Umakhanova, P. G. Akhmedova, R. M. Magomedova, K. Z. Zulfugarov, V. A. Tsargush, I. A. Chekmareva, I. A. Yakovlev, G. D. Dalgatov, G. I. Yakubovsky, A. A. Isaev
Published 2019-11-01