Enfermedades mitocondriales - Asociación Española para el ...
Enfermedades mitocondriales - Asociación Española para el ...
Enfermedades mitocondriales - Asociación Española para el ...
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Protocolo de diagnóstico y tratamiento de<br />
enfermedades <strong>mitocondriales</strong><br />
11. Hasegawa H, matsuoka T, Goto Y, et al. Strongly succinate<br />
dehydrogenase-reactive blood vess<strong>el</strong>s in muscles from<br />
patients with mitochondrial myopathy, encephalomyopathy,<br />
lactic acidosis and stroke-like episodes. Ann Neurol<br />
1991; 29: 601-05.<br />
12. Morgan-Hughes JA. Mitochondrial diseases. In: Eng<strong>el</strong> AG,<br />
Franzini-Armstrong C, ed. Myology. Basic and clinical.<br />
New york: McGrawHill 1994; p. 1632-33.<br />
13. Vog<strong>el</strong> H. Mitochondrial myopathies and the role of the<br />
pathologist in the molecular era. J Neuropath Exp Neurol<br />
2001; 60:217-27.<br />
14. Clark KM, Taylor RW, Johnson MA, et al. A mtDNA mutation<br />
in the initiation codon of the cytochrome c oxidase<br />
subunit II gne results in lower lev<strong>el</strong>s of the protein and a<br />
mitochondrial encephalomyopathy. Am J Hum Genet 1999;<br />
644:130-39.<br />
15. Campos y, Huertas R, Bautista J, et al. Muscle carnitine<br />
deficiency and lipid storage myopathy in patients with<br />
mitochondrial myopathy. Muscle and Nerve 1993; 16:778-81.<br />
16. Stadhouders AM, Jap PHK, Winkler HP, et al. Mitochondrial<br />
creatine kinase: a major constituent of pathological inclusions<br />
seen in mitochondrial myopathies. Proc Nat Acad<br />
Sci 1994; 91:5089.<br />
17. Moraes CT, Shanske S, Tritschler HJ, et al. MtDNA depletion<br />
with variable tissue expresion: A nov<strong>el</strong> genetic abnormality<br />
in mitochondrial diseases. Am J Hum Genet 1991a;<br />
48:492-501.<br />
18. Szabolcs MJ, Seigle R, Shanske S, et al. Mitochondrial DNA<br />
d<strong>el</strong>etion: a cause of chronic tubulointerstitial nephropathy.<br />
Kidney Int 1994; 45:1388.<br />
19. DiMauro S, Bonilla E. Mitochondrial encephalomyophaties.<br />
In Rosenberg RN, Prusiner SB, DiMauro S, editors.<br />
The molecular and genetic basis of neurological disease.<br />
Boston: Butterwothr-Heinemann; 1997a; p. 389-446.<br />
20. DiMauro S, Bonilla E, De Vivo DC. Does the patient have<br />
a mitochondrial encephalomyopathy?. J Child Neurol 1999;<br />
14: S23-S35.<br />
21. Ogasahara S, Eng<strong>el</strong> AG, Frens D, Mack D. Muscle coenzyme<br />
Q deficiency in familial mitochondrial encephalomyopathy.<br />
Proc Natl Acad Sci USA 1989; 86:2379.<br />
22. Musumeci O, Naini A, Slonim AE, Skavin N, Hadjigeorgiou<br />
GL, Krawiecki N, et al. Familiar cereb<strong>el</strong>lar ataxia with<br />
muscle Q10 deficiency. Neurology 2001, 56:849-855.<br />
23. Van der Maldergem L, Trijb<strong>el</strong>s F, DiMauro S, Sind<strong>el</strong>ar PJ,<br />
Musumeci O, Janssen A, et al. Coenzyme Q-responsive<br />
423