Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis

Mutations in LAMA2 gene, encoding merosin, are generally responsible of a severe congenital-onset muscular dystrophy (CMD type 1A) characterized by severe weakness, merosin absence at muscle analysis and white matter alterations at brain Magnetic Resonance Imaging (MRI). Recently, LAMA2 mutations ha...

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Detalles Bibliográficos
Autores principales: Magri, Francesca, Brusa, Roberta, Bello, Luca, Peverelli, Lorenzo, Del Bo, Roberto, Govoni, Alessandra, Cinnante, Claudia, Colombo, Irene, Fortunato, Francesco, Tironi, Roberto, Corti, Stefania, Grimoldi, Nadia, Sciacco, Monica, Bresolin, Nereo, Pegoraro, Elena, Moggio, Maurizio, Comi, Giacomo Pietro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460730/
https://www.ncbi.nlm.nih.gov/pubmed/32904964
http://dx.doi.org/10.36185/2532-1900-009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460730/
https://www.ncbi.nlm.nih.gov/pubmed/32904964
http://dx.doi.org/10.36185/2532-1900-009

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