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Identifying Clinical and Genetic Characteristics of Spinal Muscular Atrophy Patients and Families in Saudi Arabia

Introduction: Spinal muscular atrophy (SMA) is an inherited, neuromuscular disease characterized by the deterioration of spinal motor neurons, causing progressive muscular atrophy and weakening. It is an autosomal recessive disease with the mutation of the survival motor neuron 1 (SMN1) gene as a ha...

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Detalles Bibliográficos
Autores principales:	Alghamdi, Alaa, AlDossary, Shaikhah, Abdulaziz Alabdulqader, Wala, Amer, Fawzia, Ali, Mona, Almomen, Momen, Alghamdi, Fouad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623204/ https://www.ncbi.nlm.nih.gov/pubmed/37927698 http://dx.doi.org/10.7759/cureus.46452

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