期刊
NEUROLOGY
卷 65, 期 9, 页码 1465-1466出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.wnl.0000183153.82651.72
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The authors report a Chinese boy with a DYT1 gene mutation having muscle stiffness, severe painful muscle spasm, myoclonus, and dystonia compatible with stiff child syndrome. Autoantibodies to glutamic acid decarboxylase (anti-GAD) were absent. His asymptomatic mother had a DYT1 mutation. His asymptomatic sister has diabetes mellitus and antibodies to glutamic acid decarboxylase but no DYT1 mutation.
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