Maternally Inherited Cardiomyopathy: An Atypical Presentation of the mtDNA 12S rRNA Gene A1555G Mutation Filippo M. Santorelli, Kurenai Tanji, Panagiota.

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Maternally Inherited Cardiomyopathy: An Atypical Presentation of the mtDNA 12S rRNA Gene A1555G Mutation Filippo M. Santorelli, Kurenai Tanji, Panagiota Manta, Carlo Casali, Sindu Krishna, Arthur P. Hays, Donna M. Mancini, Salvatore DiMauro, Michio Hirano The American Journal of Human Genetics Volume 64, Issue 1, Pages 295-300 (January 1999) DOI: 10.1086/302188 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 A, Pedigree of family harboring the A1555G mutation. Arrowhead indicates proband. B, Autoradiogram of the restriction-length–polymorphism analysis used to quantitate mutant mtDNA. The normal 316-bp PCR-amplified fragment is cut by the endonuclease Alw26I into two fragments (219 and 97 bp). The A1555G mutation abolishes the Alw26I site. Individuals are as shown in figure 1A. “CTRL” is a normal control; wbc = white blood cells; skin1 = cultured skin fibroblasts, first passage; skin2 = cultured skin fibroblasts, second passage; myo = cultured myoblasts; m = skeletal muscle. The American Journal of Human Genetics 1999 64, 295-300DOI: (10.1086/302188) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 A, NADH-TR stain of the skeletal muscle biopsy. Arrows indicate minicores. B, Abundance of mutated mitochondrial genomes in normal and abnormal (minicore) fibers, by single-muscle-fiber PCR analysis. The difference is statistically significant (P<.05). The American Journal of Human Genetics 1999 64, 295-300DOI: (10.1086/302188) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Electrophoretic mobility of the mitochondrial translation products. Lane 1, III-1 skin fibroblasts (aminoglycoside minus). Lane 2, III-2 skin fibroblasts (aminoglycoside plus). Lanes 3 and 4, skin fibroblasts from normal controls. Lane 5, skin fibroblasts from a disease control harboring a high percentage of the G8363A mtDNA mutation (Family A, individual III-4, in Santorelli et al. 1996). The American Journal of Human Genetics 1999 64, 295-300DOI: (10.1086/302188) Copyright © 1999 The American Society of Human Genetics Terms and Conditions