title: Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.
authors.affiliation: Dipartimento di Medicina Sperimentale, Sapienza, Università di Roma, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Giordano
authors.forename: H
authors.initials: H
authors.lastname: Powell
authors.forename: M
authors.initials: M
authors.lastname: Leopizzi
authors.forename: M
authors.initials: M
authors.lastname: De Curtis
authors.forename: M
authors.initials: M
authors.lastname: de Curtis
authors.forename: C
authors.initials: C
authors.lastname: Travaglini
authors.forename: M
authors.initials: M
authors.lastname: Sebastiani
authors.forename: P
authors.initials: P
authors.lastname: Gallo
authors.forename: R W
authors.initials: RW
authors.lastname: Taylor
authors.forename: G
authors.initials: G
authors.lastname: d'Amati
mesh_terms: D030401:Cytochrome-c Oxidase Deficiency / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000378:metabolism; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D017809:Fatal Outcome; D005767:Gastrointestinal Diseases / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D041981:Gastrointestinal Tract / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007418:Intestinal Pseudo-Obstruction / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D018908:Muscle Weakness / Q000151:congenital / Q000235:genetics / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009130:Muscle, Smooth / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000235:genetics / Q000503:physiopathology; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial; D005819:Genetic Markers; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human