Familial visceral myopathy associated with a mitochondrial myopathy.
A 27 year old man with intestinal pseudo-obstruction who developed parenteral nutrition induced hyperlipidaemia and who also had ophthalmoplegia and an undifferentiated myopathy is described. Histological examination of biopsy specimens and molecular analysis show that this patient had both familial visceral myopathy and a mitochondrial myopathy, suggesting that a mitochondrial DNA mutation is the molecular lesion in familial visceral myopathy.
Lowsky
R
R
Department of Medicine, University of Toronto, Ontario, Canada.
Davidson
G
G
Wolman
S
S
Jeejeebhoy
K N
KN
Hegele
R A
RA
D000328:Adult; D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000032:analysis; D004378:Duodenal Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D004386:Duodenum / Q000648:ultrastructure; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D010375:Pedigree
D004272:DNA, Mitochondrial