Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

doi:10.1007/s00439-008-0598-1

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Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

Human genetics - 1 Feb 2009

Alías Laura, Bernal Sara, Fuentes-Prior Pablo, Barceló María Jesus, Also Eva, Martínez-Hernández Rebeca, Rodríguez-Alvarez Francisco J, Martín Yolanda, Aller Elena, Grau Elena, Peciña Ana, Antiñolo Guillermo, Galán Enrique, Rosa Alberto L, Fernández-Burriel Miguel, Borrego Salud, Millán José M, Hernández-Chico Concepción, Baiget Montserrat, Tizzano Eduardo F

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by mutations in the SMN1 gene. We have studied the molecular pathology of SMA in 745 unrelated Spanish patients using PCR-RFLP, SMN gene dosage analysis, linkage studies, long-range PCR and direct sequencing. Our systematic approach allowed us to complete genetic testing and risk assessment in 736 SMA patients (98.8%). Females were more frequently affected by the acute form...

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PMID: 19050931
DOI: 10.1007/s00439-008-0598-1

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SMN1
SMN2

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