Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press28410.17650/2222-8721-2018-8-2-59-67ORIGINAL REPORTSОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯSpinal muscular atrophy with lower limbs phenotype: clinical and genetic description of novel mutation in the DYNC1H1 geneКлинико-генетические характеристики спинальной мышечной атрофии с преимущественным поражением ног, обусловленной мутациями в гене DYNC1H1https://orcid.org/0000-0001-5602-2805DadaliE. L.ДадалиЕ. Л.
Russian Federation

1 Moskvorech’e St., Moscow 115478

115478 Москва, ул. Москворечье, 1;

NikitinS. S.НикитинС. С.
Russian Federation

Build. 2, 17 Krzhizhanovskogo St., Moscow 117258

117258 Москва, ул. Кржижановского, 17/2

https://orcid.org/0000-0001-6414-436XKonovalovF. A.КоноваловФ. А.
Russian Federation

Build. 5, 8 Podol’skoe Shosse, Moscow 115093

115093 Москва, Подольское шоссе, 8, корп. 5

https://orcid.org/0000-0002-9092-6581AkimovaI. A.АкимоваИ. А.
Russian Federation

1 Moskvorech’e St., Moscow 115478

Ирина Алексеевна Акимова

115478 Москва, ул. Москворечье, 1

akimova@med-gen.ruKorostelevS. A.КоростелевС. А.
Russian Federation

Build. 5, 8 Podol’skoe Shosse, Moscow 115093

115093 Москва, Подольское шоссе, 8, корп. 5

Research Center of Medical GeneticsФБГНУ «Медико-генетический научный центр»Medical Center “Practical Neurology”Медицинский центр «Практическая неврология»GenomedООО «Геномед»200720188259672007201820072018Copyright ©; 2018, Dadali E.L., Nikitin S.S., Konovalov F.A., Akimova I.A., Korostelev S.A.Copyright ©; 2018, Дадали Е.Л., Никитин С.С., Коновалов Ф.А., Акимова И.А., Коростелев С.А.2018Dadali E.L., Nikitin S.S., Konovalov F.A., Akimova I.A., Korostelev S.A.Дадали Е.Л., Никитин С.С., Коновалов Ф.А., Акимова И.А., Коростелев С.А.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/284

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