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A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant

Article ID Journal Published Year Pages File Type
8457271 Neurologia i Neurochirurgia Polska 2018 5 Pages PDF
Abstract
This report aims to increase our awareness of SMALED and various other phenotypes associated with mutations in this gene.
Keywords
DYNC1H1spinal muscular atrophyEMGelectromyographyDiseaseSMANeuromuscularGenetics
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Cancer Research
Preview
A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant
Authors
Joyutpal Das, James B. Lilleker, Kavaldeep Jabbal, John Ealing,
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Journal
Neurologia i Neurochirurgia Polska
Journal: Neurologia i Neurochirurgia Polska
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DYNC1H1
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