Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction.
We studied a 62 year-old woman with a clinical phenotype characterized by encephalopathy, restrictive cardiomyopathy, and prominent intestinal pseudo-obstruction. Muscle morphology showed ragged red fibres with ultrastructurally abnormal mitochondrial whereas muscle respiratory chain was normal. Molecular genetics revealed the 'common deletion' in mtDNA, which represented 40% of total mtDNA. These data expand and confirm the wide clinical spectrum of mitochondrial disorders associated with single large-scale mtDNA deletions.
Campos
Y
Y
Centro de Investigación, Hospital 12 de Octubre, Madrid, Spain.
Martín
M A
MA
Caballero
C
C
Rubio
J C
JC
de la Cruz
F
F
Tuñón
T
T
Arenas
J
J
D009202:Cardiomyopathies / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007415:Intestinal Obstruction / Q000235:genetics*; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000473:pathology; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure; D010641:Phenotype
D004272:DNA, Mitochondrial