Metabolic Myopathies
Author:
Publisher
Springer New York
Link
http://link.springer.com/content/pdf/10.1007/978-1-4614-6567-6_63
Reference198 articles.
1. Bertorini T, Yeh Y-Y, Trevisan CP, et al. Carnitine palmitoyltransferase deficiency: myoglobinuria and respiratory failure. Neurology. 1980;30:263–71.
2. Andreu AL, Hanna MG, Reichmann H, et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med. 1999;341:1037–44.
3. Preisler N, Orngreen MC, Echaniz-Laguna A, et al. Muscle phosphorylase kinase deficiency. A neutral metabolic variant or a disease? Neurology. 2012;78:265–8.
4. Burwinkel B, Maichele AJ, Aagenaes O, et al. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). Hum Mol Genet. 1997;6:1109–15.
5. Akman HO, Sampayo JN, Ross FA, et al. Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase. Pediatr Res. 2007;62:499–504.
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