This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Kevin R. Nelson, MD
Department of Neurology

Daron Davis, MD
Department of Pathology University of Kentucky Chandler Medical Center 800 Rose St Lexington, KY 40536-0084

Arch Neurol. 1990;47(1):13.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

To the Editor.

—Kieval and colleagues¹ recently described a 60-year-old woman presumably heterozygous for carnitine palmityltransferase deficiency who had fixed limb-girdle weakness without known episodes of rhabdomyolysis. The investigators were unaware of other patients who had experienced a chronic myopathy associated with this disorder.

Carey² and associates described a 72-year-old woman with low carnitine palmityltransferase enzyme activity and fixed proximal muscle weakness also without rhabdomyolysis. However, this case differed as the patient manifested ophthalmoplegia and the muscle biopsy specimen showed ragged red fibers as well as paracrystalline inclusions by electron microscopy. It is uncertain if the reduced activity of the mitochondrial-bound carnitine palmityltransferase was primary, or secondary to another mitochondrial abnormality. It would be of interest if Kieval and coworkers would comment on the ultrastructural mitochondrial findings in their patient.

In addition to the heterozygous state, gender may also have influenced phenotypic expression of carnitine palmityltransferase deficiency in their . . . [Full Text PDF of this Article]

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?