Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

Jaksch, M.; Horvath, R.; Horn, N.; Auer, D. P.; Macmillan, C.; Peters, J.; Gerbitz, K.-D.; Kraegeloh-Mann, I.; Muntau, A.; Karcagi, V.; Kalmanchey, R.; Lochmuller, H.; Shoubridge, E. A.; Freisinger, P.

期刊名称Neurology
作者Jaksch, M.; Horvath, R.; Horn, N.; Auer, D. P.; Macmillan, C.; Peters, J.; Gerbitz, K.-D.; Kraegeloh-Mann, I.; Muntau, A.; Karcagi, V.; Kalmanchey, R.; Lochmuller, H.; Shoubridge, E. A.; Freisinger, P.
卷第57卷
期第8期
印刷ISSN0028-3878
电子ISSN1526-632X
文件大小613.54KB
发表时间2001-10-23
DOI10.1212/WNL.57.8.1440
页码1440-1446

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Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy