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A 28-year-old female, who showed a floppy baby syndrome during early infancy, had a non-progressive proximal muscle weakness with easy fatiguability since childhood. Two muscle specimens biopsied at the age of 28 years revealed myriads of 1-3-mum wide abnormal spaces containing neutral fat in type I and type II fibers. Both biopsies demonstrated a type I fiber preponderance. Electron microscopy demonstrated lipid excess and normal mitochondria by simple inspection. The mitochondrial area and sarcotubular membrane profile concentration in morphometry of longitudinal sections were also normal. Cross-sections, however, revealed a slight decrease of the individual mitochondrial size and of the sarcotubular membrane profile concentration . Serum and muscle carnitine levels and the muscle carnitine palmityltransferase level were all within normal range. Besides carnitine deficiency other biochemical defects can occur in lipid storage myopathy, which represents a syndrome rather than a unique disease entity.
F Jerusalem, and
H Spiess, and
G Baumgartner
February 1982,
Acta neurologica,
F Jerusalem, and
H Spiess, and
G Baumgartner
February 1977,
Journal of neurology, neurosurgery, and psychiatry,
F Jerusalem, and
H Spiess, and
G Baumgartner
July 1993,
Muscle & nerve,
F Jerusalem, and
H Spiess, and
G Baumgartner
December 1979,
Journal of medical genetics,
F Jerusalem, and
H Spiess, and
G Baumgartner
December 1980,
European journal of pediatrics,
F Jerusalem, and
H Spiess, and
G Baumgartner
January 1988,
Brain & development,
F Jerusalem, and
H Spiess, and
G Baumgartner
February 2010,
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology,
F Jerusalem, and
H Spiess, and
G Baumgartner
October 1982,
Neurology,
F Jerusalem, and
H Spiess, and
G Baumgartner
January 1977,
European neurology,
F Jerusalem, and
H Spiess, and
G Baumgartner
February 1985,
Neuropediatrics,
