Endocrine aspects of mitochondrial cytopathy: marked phenotypic variation in two affected siblings.

Article

Endocrine aspects of mitochondrial cytopathy: marked phenotypic variation in two affected siblings.

The Quarterly journal of medicine - 1 Jan 1990

Herzberg L

Abstract excerpt

Two siblings with 'mitochondrial myopathy', one of whom was found to have hypergonadotrophic hypogonadism whilst the other had normal endocrine function are reported. The inheritance suggests an autosomal recessive mode. The protean manifestations of the disorder are emphasized. Attention is draw...

Topics

Adult
Body Height
Female
Follicle Stimulating Hormone
Gonadal Steroid Hormones
Humans
Luteinizing Hormone
Male
Mitochondria, Muscle
Muscular Diseases
Phenotype
Testis
Testosterone

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