Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina
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- 作者：Sofí ; a Medranoa ; Soledad Mongesb ; Luis Pablo Gravinaa ; Laura Alí ; asc ; g ; Julieta Mozzonid ; Hilda Veró ; nica Ará ; oza ; Sara Bernalc ; g ; Angé ; lica Morescoe ; Lilien Chertkoffa ; h ; Eduardo Tizzanof ; g ; h ; etizzano@vhebron.net" class="auth_mail" title="E-mail the corresponding author
- 关键词：Spinal muscular atrophy (SMA) ; Survival motor neuron 1 gene (SMN1) ; Survival motor neuron 2 gene (SMN2) ; Neuronal apoptosis inhibitory protein gene (NAIP) ; Small EDRK-rich factor 1A (SERF1A) ; Multiplex Ligation-dependent Probe Amplification (MLPA)
- 刊名：European Journal of Paediatric Neurology
- 出版年：2016
- 出版时间：November 2016
- 年：2016
- 卷：20
- 期：6
- 页码：910-917
- 全文大小：710 K
文摘
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A large Argentine series of children with spinal muscular atrophy were assessed.
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A strong correlation was observed between the SMN2 copy number and SMA phenotype.
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SERF1A and NAIP copy number showed a moderate correlation with SMA phenotype.
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Clinical intra- and interfamily differences among the SMA types were recognized.
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Genotype-phenotype studies are relevant to stratify SMA patients in clinical trials.