2019 / 02

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DOI: 10.24075/brsmu.2019.034
Copyright: © 2019 by the authors. Licensee: Pirogov University.
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).

ORIGINAL RESEARCH

Clinical and molecular-genetic profiles of patients with morphological indications of congenital multicore myopathy

Kozina AA1,5 , Shatalov PA3,5 , Baranich TI1 , Artemieva SB3 , Kupriyanova AG3 , Baryshnikova NV1,5 , Krasnenko AYu1,5 , Ilinsky VV1,2,5 , Sukhorukov VS1,4
About authors

1 Pirogov Russian National Research Medical University, Moscow, Russia

2 Orekhovich Research Institute of Biomedical Chemistry, Moscow, Russia

3 Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia

4 Research Center of Neurology, Moscow, Russia

5 Genotek Ltd., Moscow, Russia

Correspondence should be addressed: Anastasia A. Kozina
Nastavnichesky per 17, bld. 1, Moscow, 105120; ur.ketoneg@rotcod

About paper

Author contribution: Kozina AA — literature analysis, analysis and interpretation of exome sequencing data, manuscript preparation; Shatalov PA — data acquisition, microscopy, manuscript preparation; Baranich TI — microscopy; Artemieva SB — medical histories and neurological examinations; Kupriyanova AG — clinical data acquisition; Baryshnikova NV — literature analysis, analysis and interpretation of exome sequencing data, manuscript preparation; Krasnenko AYu — exome sequencing; Ilinsky VV — exome sequencing; Sukhorukov VS — study design, data acquisition.

Received: 2019-02-07 Accepted: 2019-04-19 Published online: 2019-04-30
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