脊髓性肌萎缩伴重度脊柱侧凸1例

IF 0.2 Q4 PEDIATRICS Paediatrica Indonesiana Pub Date : 2023-08-16 DOI:10.14238/pi63.4.2023.315-20
Dikahayu Alifia Anugrah, Sunartini Sunartini, Mohammad Juffrie
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引用次数: 0

摘要

脊髓性肌萎缩症(SMA)是一种常染色体隐性神经退行性疾病,可导致全身无力、肌肉萎缩和肌肉运动不良。这种情况是由于存活运动神经元(SMN) 1存活基因的纯合性破坏,原因是缺失、转换或突变
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Spinal muscular atrophy with severe scoliosis: a case report
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that causes general weakness, muscle atrophy, and poor muscle movement.  This condition is due to a homozygous disruption of the survival motor neuron (SMN) 1 survival gene due to deletion, conversion, or mutation.1
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CiteScore
0.40
自引率
0.00%
发文量
58
审稿时长
24 weeks
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