Myopathic disorder associated with mitochondrial abnormalities, hyperglycaemia, and hyperketonaemia
MA Salmon, MM Esiri, NB Ruderman - The Lancet, 1971 - Elsevier
MA Salmon, MM Esiri, NB Ruderman
The Lancet, 1971•ElsevierA 5-year-old girl with a distal myopathy associated with hyperglycæmia, hyperketonæmia, a
raised blood-creatine-phosphokinase (CPK) activity, and subnormal levels of insulin is
described. Muscle biopsy revealed abnormal mitochondria containing inclusion bodies and
intracellular accumulations of lipid. Increased blood CPK activity and hyperglycæmia were
also found in three clinically unaffected male relatives, her twin brother, father, and paternal
grandfather. These findings suggest that the disorder is hereditary with an autosomal …
raised blood-creatine-phosphokinase (CPK) activity, and subnormal levels of insulin is
described. Muscle biopsy revealed abnormal mitochondria containing inclusion bodies and
intracellular accumulations of lipid. Increased blood CPK activity and hyperglycæmia were
also found in three clinically unaffected male relatives, her twin brother, father, and paternal
grandfather. These findings suggest that the disorder is hereditary with an autosomal …
Abstract
A 5-year-old girl with a distal myopathy associated with hyperglycæmia, hyperketonæmia, a raised blood-creatine-phosphokinase (C.P.K.) activity, and subnormal levels of insulin is described. Muscle biopsy revealed abnormal mitochondria containing inclusion bodies and intracellular accumulations of lipid. Increased blood C.P.K. activity and hyperglycæmia were also found in three clinically unaffected male relatives, her twin brother, father, and paternal grandfather. These findings suggest that the disorder is hereditary with an autosomal dominant inheritance.
Elsevier
