【摘 要】
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Objective and Method to report a case of classical juvenile neuronal ceroid lipofuscinoses(JNCL,also known as Batten disease).Results A 19-year-old girl developed progressive visual impairment at the
【机 构】
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Laboratory Of Neuromuscular Disorders And Department Of Neurology, Qilu Hospital, Shandong Universit
【出 处】
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The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie
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Objective and Method to report a case of classical juvenile neuronal ceroid lipofuscinoses(JNCL,also known as Batten disease).Results A 19-year-old girl developed progressive visual impairment at the age of 6, later followed by speech problem, motor coordination, mental retardation,epilepsy and final blindness.Neurological examinations revealed bilateral optic nerve atrophy, ataxia, rapid and repeatedspeech, mild muscle weakness and areflexia in all the extremities.
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