Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype

Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the degeneration of motor neurons, muscle weakness, and atrophy that leads to infant's death. The duplication of exon 7/8 in the SMN2 gene reduces the clinical severity of disease, and it is defined...

Descripción completa

Detalles Bibliográficos

Autores principales:	Drenushe Zhuri, Hakan Gurkan, Damla Eker, Yasemin Karal, Sinem Yalcintepe, Engin Atli, Selma Demir, Emine Ikbal Atli
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	KeAi Communications Co., Ltd. 2022-09-01
Colección:	Global Medical Genetics
Materias:	spinal muscular atrophy modifying genes neuromuscular disorder smn1 smn2
Acceso en línea:	http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-1751302
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!