spinal muscular atrophy

Objective To investigate the clinical and electrophysiology features of infantile spinal muscular atrophy, and explore the clinical significance of genetic diagnosis.

目的探讨婴儿型脊髓性肌萎缩症的临床、电生理特点及基因诊断的临床意义。

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The clinicopathological changes were investigated by electromyogram ( EMG) and muscle biopsy in 30 cases of chronic spinal muscular atrophy.

对30例慢性肌脊髓性萎缩症患者进行肌电图和肌活检检查。

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The diagnosis value of SMN gene deletions in progressive spinal muscular atrophy

运动神经元存活基因对进行性脊肌萎缩症的诊断价值

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Methods The clinical data of13 infants suffering from infantile spinal muscular atrophy were analysed.

方法分析13例婴儿型脊髓性肌萎缩症患儿的临床资料。

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Study of NAIP gene in spinal muscular atrophy

脊髓性肌萎缩患儿的NAIP基因分析

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Application of quantitative analysis of survival motor neuron copy number in gene diagnosis for type ⅲ spinal muscular atrophy

运动神经元生存基因拷贝数定量分析在Ⅲ型脊髓性肌萎缩症基因诊断中的应用

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β-thalassemia and Spinal muscular atrophy ( SMA) are two common autosomal recessive diseases.

β地中海贫血和脊髓性肌萎缩是两种常见的单基因遗传病。

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Methods: we used deidentified, family-reported data from participants in the international spinal muscular atrophy patient registry and obtained additional clinical information through a mail-in questionnaire.

方法：应用来源于国际脊肌萎缩症患者注册处的鉴定、家庭报道数据，并通过邮寄问卷的形式获得更多的临床信息。

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Detection of survival motor neuron gene deletions using allele-specific amplification in patients with spinal muscular atrophy

等位基因特异性扩增法检测脊髓性肌萎缩运动神经元生存基因缺失

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Progressive spinal muscular atrophy

脊髓性进行性肌萎缩

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Objectives To investigate the clinical features and the onset pattern of spinal muscular atrophy.

目的探讨脊肌萎缩症的临床特点和遗传方式。

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Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.

儿童型脊髓性肌萎缩症是常见的遗传性神经肌肉病，为常染色体隐性遗传。

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In humans, probably the most common genetic disorder caused by inbreeding is spinal muscular atrophy ( SMA).

在人类中，由近亲繁殖带来的最普遍的遗传缺陷可能是脊髓性肌肉萎缩症。

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Analysis of clinical manifestation and EMG in patients with spinal muscular atrophy accompanied by elevation of CK levels

肌酸磷酸激酶增高的脊髓性肌萎缩症患者临床与肌电图分析

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Objective To investigate the relationship between survival motor neuron ( SMN) gene and the clinical features of childhood spinal muscular atrophy ( SMA).

目的探讨运动神经元存活基因与儿童期脊肌萎缩症临床特征的关系。

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The characteristics of spinal muscular atrophy in adults

成人型脊髓性肌萎缩症临床及遗传学研究

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ATP staining revealed isotype muscle grouping and muscle fibre compensative hypertrophy. CONCLUSION: Muscle biopsy has significances in diagnosis and differentiation of adult spinal muscular atrophy.

结论：肌活检对成人型脊髓性肌萎缩症具有诊断和鉴别诊断意义。

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By segregation analysis of recessive inheritance, 23 cases of 12 pedigree suffering from spinal muscular atrophy fit autosomal recessive inheritance.

隐性遗传分离分析表明，12个家系23例患儿发病方式符合常染色体隐性遗传。

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Prenatal diagnosis of spinal muscular atrophy based on umbilical cord blood

胎儿脐带血产前诊断脊髓性肌萎缩症

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Study on the Gene Diagnosis and the Genotype-Phenotype Correlation of Spinal Muscular Atrophy

脊髓性肌萎缩症基因诊断及基因型与表型关系的研究

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Electromyogram ( emg) and muscle biopsy in patients with chronic spinal muscular atrophy

慢性脊髓性肌萎缩的肌电图及肌活检

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Detection of SMN gene deletions in spinal muscular atrophy

脊肌萎缩症基因缺失的初步研究

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Objective To carry out prenatal gene diagnosis in a pedigree of infantile spinal muscular atrophy ( SMA).

目的对一婴儿型脊肌萎缩症家系进行产前基因诊断。

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Clinical analysis of 129 cases of progressive spinal muscular atrophy

进行性脊肌萎缩症129例临床分析

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A study on gene diagnosis in childhood-onset spinal muscular atrophy

儿童型脊肌萎缩症基因诊断的研究

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Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population

古巴人群Ⅰ型脊肌萎缩发生率降低的依据

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Gene diagnosis and prenatal gene diagnosis of spinal muscular atrophy

脊髓性肌萎缩的基因诊断和产前基因诊断研究

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Clinical study of 83 cases with spinal muscular atrophy in children

小儿进行性脊髓性肌萎缩83例临床分析

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Gene Diagnosis of Spinal Muscular Atrophy in Children

儿童脊髓性肌萎缩症的基因诊断

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A case report of spinal muscular atrophy ( adult type) with clinical and pathological examinations

成人型脊髓性肌萎缩&附1例临床及病理报告

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