POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family.
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Authors
Gurgel-Giannetti J, Camargos ST, Cardoso F, Hirano M, DiMauro S
Source
Muscle & nerve 45:3 2012 Mar pg 453-4MeSH
AdultArginine
Brazil
Cardiomyopathies
Cysteine
DNA Mutational Analysis
DNA-Directed DNA Polymerase
Depression
Electromyography
Female
Gait Disorders, Neurologic
Humans
Male
Muscle, Skeletal
Mutation
Neural Conduction
Ophthalmoplegia, Chronic Progressive External
Parkinson Disease
Phenotype
Succinate Dehydrogenase
Pub Type(s)
LetterLanguage
eng
PubMed ID
22334187
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