Heterogeneous phenotypes of mitochondrial encephalomyopathy in a single kindred.
Five patients with mitochondrial disorders in a single family showed marked heterogeneity of clinical signs and symptoms. Two patients had the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; one had blepharoptosis, seizures, and diabetes insipidus; and two had a nonspecific encephalomyopathic disorder. This family supports the concept of a "mitochondrial cytopathy."
Ishitsu
T
T
Department of Pediatrics, Kumamoto University Medical School, Japan.
Miike
T
T
Kitano
A
A
Haraguchi
Y
Y
Ohtani
Y
Y
Matsuda
I
I
Shimoji
A
A
Kimura
H
H
D000140:Acidosis, Lactic / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D002561:Cerebrovascular Disorders / Q000235:genetics; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D013577:Syndrome