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  • Disease with characteristics of early-onset selective weakness of the great toe and ankle dorsiflexors and a very slowly progressive course. Age at onset varies from 4 to 5 years to the early twenties. Early weakness of neck flexion is present in all patients. Mild involvement of the facial musculature (particularly of the orbicularis oculi and oris muscles) is often present. Mild proximal weakness develops more than ten years after the onset of the disease. Caused by mutation of the MYH7 gene (14q11) and transmitted as an autosomal dominant trait.
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