A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation
Kurogouchi F, Oguchi T, Mawatari E, et al. A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation. Am J Nephrol 18: 551-556, 1998.
Cardiac involvement in mitochondrial diseases. a study on 17 patients with documented mitochondrial DNA defects
Anan R, Nakagawa M, Miyata M, et al. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 91: 955-961, 1995.
Maternally inherited cardiomyopathy: A new phenotype associated with the a to G at nt.3243 of mitochondrial DNA (MELAS mutation)
Silvestri G, Bertini E, Servidei S, et al. Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation). Muscle Nerve 20: 221-225, 1997
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia
Suomalainen A, Majander A, Haltia M, et al. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest 90: 61-66, 1992.
Leu(UUR) mutation in mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS): Genetic, biochemical, and morphological correlation in skeletal muscle
Leu(UUR) mutation in mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS): Genetic, biochemical, and morphological correlation in skeletal muscle. Am J Hum Genet 50: 934-949, 1992.