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cge12169-sup-0001-appendixs1.docxWord 2007 document14KAppendix S1. Clinical description of the family
cge12169-sup-0002-appendixs2.docxWord 2007 document12KAppendix S2. Methods
cge12169-sup-0003-figures1.JPGJPEG image56KFig. S1. Western blot of protein isolated from the myocardium. The left lane with protein isolated from the heart of the patient shows 2 bands for αB-crystallin (CRYAB), one at 20 kDa en a second band at ∼24 kDa. In the right lane with protein from a control patient only one band at 20 kDa is present. An antibody directed against α-tubuline was used as loading control.
cge12169-sup-0004-figures2.JPGJPEG image718KFig. S2. Transmission electronmiscroscopy of the myocardium. (a) Heart of a healthy control showing regular myofibrils with mitochondria in between the myofibrils, bar = 2 µm. (b) Heart of the patients showing abnormal architecture of the myofibrils in relation to the mitochondria. Same magnification as (a). (c) Transverse cross-section of a cardiomyocyte with an intracellular aggregate showing electron-dense and electron-poor areas, bar = 2 µm. (d) Higher magnification of the area indicated by a box in C showing remnants of myofibrils in the intracellular accumulations indicated by an arrow, bar = 1 µm.
cge12169-sup-0005-figures3.docWord document286KFig. S3. (a) Last pre-transplant ECG of index III:2: sinus rhythm 85 bpm, intermediate heart axis, PQ 180 ms, QRS 105 ms, (no evidence for conduction disease), low voltage in standard leads, negative T waves in the lateral leads. (b) Individual IV:2 13 years: Irregular sinus rhythm, repolarisation abnormalities: positive T waves in V1–V3, negative T waves in V4–V6. (c) Individual IV:3 13 years: Regular sinus rhythm, repolarisation abnormalities: positive T waves in V1–V2, negative T waves in V4–V6.

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