Do carriers of POLG mutation W748S have disease manifestations?

Clinical Genetics

Volumn 72, Issue 6, 2007, Pages 532-537

  Rantamäki, Maria ^a   Luoma, P ^b,c   Virta, J J ^d   Rinne, J O ^d   Paetau, A ^b,c   Suomalainen, A ^b,c   Udd, B ^b,c,e,f  

^a SEINÄJOKI CENTRAL HOSPITAL   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d UNIVERSITY OF TURKU   (Finland)

^e VAASA CENTRAL HOSPITAL   (Finland)

^f UNIVERSITY OF TAMPERE MEDICAL SCHOOL   (Finland)

Author keywords

Ataxia; Disorders; MIRAS; Mitochondrial; POLG; POLG1; Polymerase gamma; Spinocerebellar ataxias; W748S mutation

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; GLUCOSE; PROTEIN POLG; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FAMILY; FEMALE; GENE MUTATION; GLUCOSE METABOLISM; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MALE; MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME; NEUROLOGIC DISEASE; PHENOTYPE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; SENSORY NEUROPATHY; SYMPTOM;

ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; ATAXIA; DNA-DIRECTED DNA POLYMERASE; FEMALE; FINLAND; GENES, RECESSIVE; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; PEDIGREE; PHENOTYPE; POSITRON-EMISSION TOMOGRAPHY; SYNDROME;

EID: 36248933747     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00908.x     Document Type: Article

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