Mitochondrial DNA depletion and polg mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia;Depleción del ácido desoxirribonucleico mitocondrial y mutaciones de POLG en un paciente con neuropatía sensorial atáxica, disartria y oftalmoplejía

Medicina Clinica

Volumn 135, Issue 10, 2010, Pages 452-455

  Posada, Ignacio J ^a   Gallardo, María Esther ^b,d   Domínguez, Cristina ^a,d   Rivera, Henry ^a,d   Cabello, Ana ^a,d   Arenas, Joaquín ^a,d   Martín, Miguel A ^a,d   Garesse, Rafael ^b,d   Bornstein, Belén ^b,c,d  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^c HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

Depletion; Dysarthria and ophthalmoplegia; Mitochondrial deoxyribonucleic acid; Multiple deletions; POLG; Sensory ataxic neuropathy

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA;

ADULT; ARTICLE; ATAXIA; CASE REPORT; DNA DETERMINATION; DYSARTHRIA; GENE DELETION; GENE DOSAGE; GENE MUTATION; GENETIC SCREENING; HUMAN; MALE; MITOCHONDRIAL DNA DEPLETION; MYELINATED NERVE; NERVE BIOPSY; OPHTHALMOPLEGIA; SENSORY NEUROPATHY; SKELETAL MUSCLE; SURAL NERVE;

ATAXIA; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; DYSARTHRIA; HUMANS; MALE; MIDDLE AGED; MUTATION; OPHTHALMOPLEGIA; PEDIGREE;

EID: 77957148442     PISSN: 00257753     EISSN: 15788989     Source Type: Journal    
DOI: 10.1016/j.medcli.2010.03.031     Document Type: Article

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