Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.

Authors :: Giordano C
Powell H
Leopizzi M
De Curtis M
Travaglini C
Sebastiani M
Gallo P
Taylor RW
d'Amati G
Source :: Neurology [Neurology] 2009 Mar 24; Vol. 72 (12), pp. 1103-5.
Publication Year :: 2009

Subjects :: Cytochrome-c Oxidase Deficiency genetics
Cytochrome-c Oxidase Deficiency physiopathology
DNA Mutational Analysis
DNA Polymerase gamma
DNA, Mitochondrial metabolism
Fatal Outcome
Gastrointestinal Diseases diagnosis
Gastrointestinal Tract metabolism
Gastrointestinal Tract pathology
Gastrointestinal Tract physiopathology
Genetic Markers genetics
Genetic Predisposition to Disease genetics
Genotype
Humans
Infant, Newborn
Intestinal Pseudo-Obstruction diagnosis
Male
Muscle Weakness congenital
Muscle Weakness genetics
Muscle Weakness physiopathology
Muscle, Skeletal metabolism
Muscle, Skeletal pathology
Muscle, Skeletal physiopathology
Muscle, Smooth metabolism
Muscle, Smooth pathology
Muscle, Smooth physiopathology
Muscular Diseases diagnosis
Respiratory Insufficiency genetics
Respiratory Insufficiency physiopathology
Syndrome
DNA-Directed DNA Polymerase genetics
Gastrointestinal Diseases congenital
Gastrointestinal Diseases genetics
Intestinal Pseudo-Obstruction complications
Intestinal Pseudo-Obstruction genetics
Muscular Diseases congenital
Muscular Diseases genetics
Mutation, Missense genetics

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