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Patient is eldest son of patient in figure 3.

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Presentation on theme: "Patient is eldest son of patient in figure 3."— Presentation transcript:

1 Patient is eldest son of patient in figure 3.
Patient is eldest son of patient in figure 3. He has congenital onset myotonic dystrophy and already shows similar features to his mother and frontal balding (approximately 1300 CTG repeats). Unfortunately, his younger brother (approximately 1500 CTG repeats) died suddenly and this was presumed to be secondary to a malignant cardiac arrhythmia. Chris Turner, and David Hilton-Jones J Neurol Neurosurg Psychiatry 2010;81: ©2010 by BMJ Publishing Group Ltd

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This patient (shown from behind) presented with slowly progressive weakness and wasting of the shoulder girdles, neurophysiological evidence of denervation.

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