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Sensory motor ataxic neuropathy associated dysarthria and ophthalmoplegia 'SMANDO' in a consanguineous Moroccan patient with new POLG gene homozygote mutation

Authors :
H. Dehbi
P. Bouche
Hajar Khattab
I. Slassi
M.A. Rafai
C. Jardel
Source :
Revue Neurologique. 177:144-146
Publication Year :
2021
Publisher :
Elsevier BV, 2021.

Subjects

Subjects :
Sensory motor
Ophthalmoplegia
business.industry
Dysarthria
Homozygote
Bioinformatics
DNA, Mitochondrial
DNA Polymerase gamma
Consanguinity
Neurology
Mutation
Mutation (genetic algorithm)
Humans
Medicine
Neurology (clinical)
medicine.symptom
business
Gene

Details

ISSN :
00353787
Volume :
177
Database :
OpenAIRE
Journal :
Revue Neurologique
Accession number :
edsair.doi.dedup.....3db04ca02d120cda48ad57401187cc83
Full Text :
https://doi.org/10.1016/j.neurol.2020.04.018
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