Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

Journal of Neurology

Volumn 255, Issue 9, 2008, Pages 1384-1391

  Virgilio, R ^a   Ronchi, D ^a   Hadjigeorgiou, G M ^b   Bordoni, A ^a   Saladino, F ^a   Moggio, M ^a   Adobbati, L ^c   Kafetsouli, D ^b   Tsironi, E ^b   Previtali, S ^d   Papadimitriou, A ^b   Bresolin, N ^a,e   Comi, G P ^a  

^a Centro Dino Ferrari   (Italy)

^b UNIVERSITY OF THESSALY   (Greece)

^c UNIVERSITY OF MILAN   (Italy)

^d SAN RAFFAELE HOSPITAL   (Italy)

^e SCIENTIFIC INSTITUTE   (Italy)

Author keywords

mtDNA deletions; Progressive external ophthalmoplegia

Indexed keywords

CREATINE KINASE; HELICASE; MITOCHONDRIAL DNA; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 1 PROTEIN; PROTEIN ANT1; PROTEIN POLG1; PROTEIN POLG2; PROTEIN TWINKLE; UNCLASSIFIED DRUG;

ABNORMALLY HIGH SUBSTRATE CONCENTRATION IN BLOOD; ADULT; AGED; ANT1 GENE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BULBAR PARALYSIS; CATARACT; CEREBELLUM DISEASE; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; COGNITIVE DEFECT; COHORT ANALYSIS; COMORBIDITY; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DIABETES MELLITUS; DYSPHAGIA; EXTRAPYRAMIDAL SYMPTOM; FEMALE; GENE; GENETIC HETEROGENEITY; GENETIC SCREENING; HEART DISEASE; HUMAN; HYPOACUSIS; HYPOTHYROIDISM; LACTIC ACIDOSIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MITOCHONDRIAL DNA DEPLETION SYNDROME; MYOPATHY; NEUROPATHY; ONSET AGE; OPHTHALMOPLEGIA; PHENOTYPE; POLG1 GENE; POLG2 GENE; POLYNEUROPATHY; PRIORITY JOURNAL; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 1 GENE; PTOSIS; RETINITIS PIGMENTOSA; SHORT STATURE; TWINKLE GENE;

ADENINE NUCLEOTIDE TRANSLOCATOR 1; ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; COHORT STUDIES; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; FEMALE; GENE DELETION; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MOLECULAR SEQUENCE DATA; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; YOUNG ADULT;

EID: 55149119156     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-008-0926-3     Document Type: Article

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