Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy

Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are two common kinds of neuromuscular disorders sharing various similarities in clinical manifestations. SMA is an autosomal recessive genetic disorder that results from biallelic mutations of the survival motor neuron 1 gene (SMN1;...

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Detalles Bibliográficos
Autores principales: Xia, Yu, Feng, Yijie, Xu, Lu, Chen, Xiaoyang, Gao, Feng, Mao, Shanshan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7987946/
https://www.ncbi.nlm.nih.gov/pubmed/33777091
http://dx.doi.org/10.3389/fgene.2021.605611

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7987946/
https://www.ncbi.nlm.nih.gov/pubmed/33777091
http://dx.doi.org/10.3389/fgene.2021.605611

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