Spinal muscular atrophy with lower limbs phenotype: clinical and genetic description of novel mutation in the DYNC1H1 gene

Authors: Dadali E.L.¹, Nikitin S.S.², Konovalov F.A.³, Akimova I.A.¹, Korostelev S.A.³
Affiliations:
1. Research Center of Medical Genetics
2. Medical Center “Practical Neurology”
3. Genomed
Issue: Vol 8, No 2 (2018)
Pages: 59-67
Section: ORIGINAL REPORTS
Published: 20.07.2018
URL: https://nmb.abvpress.ru/jour/article/view/284
DOI: https://doi.org/10.17650/2222-8721-2018-8-2-59-67
ID: 284

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spinal muscular atrophy with lower limbs phenotype, DYNC1H1 gene, spinal amyotrophy

Research Center of Medical Genetics

Email: fake@neicon.ru
ORCID iD: 0000-0001-5602-2805
1 Moskvorech’e St., Moscow 115478 Russian Federation

Medical Center “Practical Neurology”

Email: fake@neicon.ru
Build. 2, 17 Krzhizhanovskogo St., Moscow 117258 Russian Federation

Genomed

Email: fake@neicon.ru
ORCID iD: 0000-0001-6414-436X
Build. 5, 8 Podol’skoe Shosse, Moscow 115093 Russian Federation

Research Center of Medical Genetics

Author for correspondence.
Email: akimova@med-gen.ru
ORCID iD: 0000-0002-9092-6581
1 Moskvorech’e St., Moscow 115478 Russian Federation

Genomed

Email: fake@neicon.ru
Build. 5, 8 Podol’skoe Shosse, Moscow 115093 Russian Federation

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