Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy.
Hisama
Fuki M
FM
Mancuso
Michelangelo
M
Filosto
Massimiliano
M
DiMauro
Salvatore
S
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000473:pathology*; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D014202:Tremor / Q000473:pathology*
D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human