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We report on 3 siblings with adult-onset,predominantly distal muscle weakness.In the female index patients this was associated with epilepsy and a progressive spastic gait,while the 2 other siblings had no appreciable clinical nervous system involvement.Additional investigations revealed muscular dystrophy and leukoencephalopathy in all 3 siblings.We conclude that this familial adult-onset muscular dystrophy associated with leukoencephalopathy represents a newly recognized autosomal recessive syndrome. |
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