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Artigo Acesso aberto Revisado por pares
BIBTEX RIS

Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy

2024; Wolters Kluwer; Volume: 10; Issue: 4 Linguagem: Inglês

10.1212/nxg.0000000000200175

ISSN

2376-7839

Autores

Mar Costa‐Roger, Laura Campello Blasco, Lorène Gerin, Marta Codina‐Solà, Jordi Leno-Colorado, Marta Gómez‐García de la Banda, Rocío Garcia-Uzquiano, Pascale Saugier‐Veber, Séverine Drunat, Susana Quijano‐Roy, Eduardo F. Tizzano,

Tópico(s)

Congenital Anomalies and Fetal Surgery

Resumo

Spinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by the loss or presence of point pathogenic variants in the

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