Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia. A muscular biochemical study of a mitochondrial disorder.
The association of chronic intestinal pseudoobstruction with ophthalmoplegia has been reported previously in visceral myopathies. We report a case of this association in which muscle mitochondria had a crystalline appearance, a dense core, and decreased cytochrome c oxidase and succinate cytochrome c reductase activities. The absence of evident mitochondrial DNA deletion in the skeletal muscle of this patient does not exclude the possibility of localized deletion or mutation of mitochondrial DNA in digestive muscle.
Li
V
V
Service de Gastroentérologie et d'Hépatologie, Hopital A. Michallon, Grenoble, France.
Hostein
J
J
Romero
N B
NB
Marsac
C
C
Mezin
P
P
Bost
R
R
Degoul
F
F
Fardeau
M
M
Fournet
J
J
D002908:Chronic Disease; D004247:DNA / Q000032:analysis; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000150:complications / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D007579:Jejunal Diseases / Q000150:complications / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000648:ultrastructure*; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D009886:Ophthalmoplegia / Q000150:complications / Q000473:pathology*; D013577:Syndrome
D004247:DNA