Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.
Giordano
C
C
Dipartimento di Medicina Sperimentale, Sapienza, Università di Roma, Rome, Italy.
Powell
H
H
Leopizzi
M
M
De Curtis
M
M
de Curtis
M
M
Travaglini
C
C
Sebastiani
M
M
Gallo
P
P
Taylor
R W
RW
d'Amati
G
G
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
D004272:DNA, Mitochondrial; D005819:Genetic Markers; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human