Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00508-012-0296-9.pdf
Reference21 articles.
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2. Wieser T, Deschauer M, Olek K, Hermann T, Zierz S. Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients. Neurology. 2003;60(8):1351–3.
3. Deschauer M, Wieser T, Zierz S. Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. Arch Neurol. 2005;62:37–41.
4. Finochhiaro G, Taroni F, Rocchi M, et al. cDNA cloning, sequence analysis, and chromosomal localisation of the gene for human carnitine palmitoyltransferase. Proc Natl Acad Sci U S A. 1991;88:661–5.
5. Taroni F, Verderio E, Dworzak F, et al. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat Genet. 1993;4:314–9.
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