Fig. 1
Clinical diagnosis and molecular genetic analysis for the patient. a A partial family pedigree. Filled square indicates this patient. b Radiographic and ultracardiographic images for this patient at age 11 years, indicating hypertrophic cardiomyopathy. Cardiothoracic ratio (CTR) in radiographic image is also shown. c T2-weighted FLAIR images of brain MRI for this patient at age 13 years, indicating multifocal stroke-like episodes. Brain MRS also shows decreased N-acetylaspartate (NAA) level and increased lactate (Lac) level. d Histopathology against serial frozen sections of biopsied skeletal muscle specimens from this patient at age 13 years, indicating diffuse COX deficiency. e Electropherograms of the anticodon domain of MT-TW gene for extracted DNA from blood tissues and skeletal muscle tissues of both control and this patient. Arrowheads indicate m.5541C > T. Note that the same mutation was also found in blood tissues from this patient’s asymptomatic mother. f Alignment of sequences in the anticodon-stem and the anticodon-loop of MT-TW gene from various eukaryotes. Arrowhead indicates m.5541C > T. Blue-colored characters indicate the anticodon recognition site of mitochondrial tRNATrp