Mitochondrial Neurogastrointestinal Encephalomyopathy
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/3-540-27660-2_27
Reference23 articles.
1. Bardosi A, Creutzfeldt W, DiMauro S, Felgenhauer K, Friede RL, Goebel HH, Kohlschütter A, Mayer G, Rahlf G, Servidei S, van Lessen G, Wetterling T. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol (Berl) 1987; 74: 248–258
2. Carrozzo R, Davidson MM, Walker WF, Hiranio M, Miranda AF. Cellular and molecular studies in the muscle and cultures from patients with multiple mitochondrial DNA deletions. J Neurol Sci 1999; 170: 24–31
3. Gamez J, Ferriero C, Accarino ML, Guarner L, Tadesse S, Marti RA, Andreu AL, Raguer N, Cervera C, Hirano M. Phenotypic variability in a Spanish family with MNGIE. Neurology 2002; 59: 455–457
4. Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, Hays AP, Lovelace RE, Butler I, Bertorini TE, Threlkeld AB, Mitsumoto H, Salberg LM, Rowland LP, DiMauro S. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994; 44: 721–727
5. Hirano M, Garcia-de-Yebenes J, Jones AC, Nishino I, DiMauro S, Carlo JR, Bender AN, Hahn AF, Salberg LM, Weeks DE, Nygaard TG. Mitochondrial neurogastrointestinal encephalo-myopathy syndrome maps to chromosome 22q13.32-qter. Am J Hum Genet 1998; 63: 526–533
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