Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation
T Tyni, A Majander, H Kalimo, J Rapola… - Neuromuscular disorders, 1996 - Elsevier
Lactic acidosis and mitochondrial abnormalities have been reported in long-chain 3-
hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. We studied muscle morphology and
the respiratory chain function in ten patients with LCHAD deficiency and the G1528C
mutation. In eight cases the light microscopy of muscle specimens showed fatty infiltration
and fibre degeneration. The degenerated fibres appeared as ragged red fibres in four cases.
Electron microscopy revealed enlarged mitochondria often with a swollen appearance in …
hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. We studied muscle morphology and
the respiratory chain function in ten patients with LCHAD deficiency and the G1528C
mutation. In eight cases the light microscopy of muscle specimens showed fatty infiltration
and fibre degeneration. The degenerated fibres appeared as ragged red fibres in four cases.
Electron microscopy revealed enlarged mitochondria often with a swollen appearance in …