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Carnitine Deficiency Myopathy
S.V.
JAMA. 1973;225(2):165-166.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings. |
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Six years ago, a preliminary communication published in the Journal1 reported a new myopathy characterized by muscle weakness, mitochondrial changes, and abnormal fat accumulation in skeletal muscle fibers. As is often the case with "new" diseases, other "firsts" preceded2 and followed3,4 this report, each differing from the others by the description of variable pathological manifestations, such as the extent of muscle involvement, the static or progressive nature of muscular weakness, or the amount of lipid deposition. In two identical twins, 18-year-old girls,4 however, the main symptom was not weakness, but muscle cramps provoked by exercise and, more significantly, by a high-fat, low-carbohydrate diet—circumstances suggesting that the disease was a metabolic myopathy, and that the clue to its cause had to be looked for in the faulty utilization of fatty acids.
In the August 1972 issue of the Archives of Neurology, Engel and Siekert5 described a
. . . [Full Text PDF of this Article]
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