Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome.

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作者： Hande Gazeteci,Tekin ^[1] ; Pinar,Edem ^[2] ; Berk,Özyılmaz ^[3]

作者单位： İzmir Bakircay University Cigli Training and Research Hospital, Department of Pediatrics, Division of Pediatric Neurology, Izmir, Turkey. Electronic address: hande.tekin@bakircay.edu.tr. ^[1] İzmir Bakircay University Cigli Training and Research Hospital, Department of Pediatrics, Division of Pediatric Neurology, Izmir, Turkey. ^[2] Tepecik Training and Research Hospital, Genetic Disease Center, Turkey. Electronic address: drberk@gmail.com. ^[3]

关键词 DYNC1H1 Gowers' sign Lordosis SMA-LED

主题词胞浆动力蛋白类(Cytoplasmic Dyneins);步态障碍, 神经性(Gait Disorders, Neurologic);人类(Humans);下肢(Lower Extremity);肌萎缩, 脊髓性(Muscular Atrophy, Spinal)

DOI 10.1016/j.braindev.2021.12.001

PMID 34974950

发布时间 2022-03-21

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