Lipid storage myopathy in familial hyperlipoproteinemia.

@article{Kinoshita1984LipidSM,
  title={Lipid storage myopathy in familial hyperlipoproteinemia.},
  author={M. Kinoshita and N. Wakata},
  journal={Archives of neurology},
  year={1984},
  volume={41 5},
  pages={
          551-4
        }
}
We studied a 23-year-old man with lipid storage myopathy. Five members of his family had hyperlipoproteinemia, and his consanguineous parents had elevated serum creatine kinase levels, although only the father showed clinical evidence of myopathy. The patient's intramuscular carnitine content was slightly reduced, but the reduction was not significant compared with the average value for reported cases with carnitine deficiency. Urinary excretion of carnitine showed good responses to starvation… Expand
1 Citations
Mitochondrial myopathy: a genetic study of 71 cases.

References

SHOWING 1-10 OF 25 REFERENCES
Carnitine-palmityl-transferase deficiency
Lipid storage myopathy in von Gierke's disease A case report
The syndrome of systemic carnitine deficiency
Lipid storage myopathy responsive to prednisone.
Hepatitis-associated lipid storage myopathy.
Heterogeneity of carnitine-palmitoyltransferase deficiency
...
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3
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