Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.a467T POLG mutation

Muscle and Nerve

Volumn 41, Issue 2, 2010, Pages 265-269

  McHugh, John C ^a   Lonergan, Roisin ^a   Howley, Rachel ^b   O'Rourke, Killian ^a   Taylor, Robert W ^c   Farrell, Michael ^b   Hutchinson, Michael ^a   Connolly, Sean ^a  

^a ST VINCENT S UNIVERSITY HOSPITAL   (Ireland)

^b BEAUMONT HOSPITAL   (Ireland)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Dysarthria; Mitochondrial disease; Ophthalmoparesis; Polymerase gamma; SANDO; Sensory ataxic neuropathy

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA;

ADULT; ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; DISABILITY; DISEASE COURSE; DISEASE SEVERITY; DYSARTHRIA; FEMALE; GENE DELETION; GENE MUTATION; GENETIC STABILITY; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; MALE; OPHTHALMOPLEGIA; PRIORITY JOURNAL; SENSORY ATAXIC NEUROPATHY DYSARTHRIA AND OPHTHALMOPARESIS; SENSORY NEUROPATHY; SIBLING; STRUCTURAL GENE; SYNDROME;

ATAXIA; DISEASE PROGRESSION; DNA-DIRECTED DNA POLYMERASE; DYSARTHRIA; FEMALE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; OPHTHALMOPLEGIA; PROGNOSIS; SIBLINGS;

EID: 76649083564     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21494     Document Type: Article

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