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  • Title: Familial adult-onset muscular dystrophy with leukoencephalopathy.
    Author: van Engelen BG, Leyten QH, Bernsen PL, Gabreëls FJ, Barkhof F, Joosten EM, Hamel BC, ter Laak HJ, Ruijs MB, Cruysberg JR.
    Journal: Ann Neurol; 1992 Oct; 32(4):577-80. PubMed ID: 1456743.
    Abstract:
    We report on 3 siblings with an adult-onset, predominantly distal muscle weakness. In the female index patient this was associated with epilepsy and a progressive spastic ataxic 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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