POLG1 Arg953Cys mutation: Expanded phenotype and recessive inheritance in a brazilian family

Muscle and Nerve

Volumn 45, Issue 3, 2012, Pages 453-454

  Gurgel Giannetti, Juliana ^a   Camargos, Sarah Teixeira ^a   Cardoso, Francisco ^a   Hirano, Michio ^b   Dimauro, Salvatore ^b  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^b Department of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA; PRAMIPEXOLE;

ADULT; BRADYKINESIA; BRAZIL; CARDIOMYOPATHY; CASE REPORT; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; DEPRESSION; EARLY MENOPAUSE; ECHOCARDIOGRAPHY; FEMALE; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; LETTER; MALE; MUSCLE BIOPSY; MUSCLE RIGIDITY; MUTATIONAL ANALYSIS; NEUROIMAGING; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PSYCHOSIS; RECESSIVE INHERITANCE; SEQUENCE ANALYSIS; SIBLING; TREMOR;

ADULT; ARGININE; BRAZIL; CARDIOMYOPATHIES; CYSTEINE; DEPRESSION; DNA MUTATIONAL ANALYSIS; DNA-DIRECTED DNA POLYMERASE; ELECTROMYOGRAPHY; FEMALE; GAIT DISORDERS, NEUROLOGIC; HUMANS; MALE; MUSCLE, SKELETAL; MUTATION; NEURAL CONDUCTION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PARKINSON DISEASE; PHENOTYPE; SUCCINATE DEHYDROGENASE;

EID: 84857070924     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.22330     Document Type: Letter

References (9)

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