Cargando…
Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy
Autores principales: | Cerino, Mathieu, Bartoli, Marc, Riccardi, Florence, Le Goanvic, Brigitte, Blanck, Véronique, Salvi, Alexandra, Lévy, Nicolas, Krahn, Martin, Choumert, Ariane |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732236/ https://www.ncbi.nlm.nih.gov/pubmed/33107701 http://dx.doi.org/10.1002/acn3.51193 |
Ejemplares similares
-
Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy
por: Nallamilli, Babi Ramesh Reddy, et al.
Publicado: (2020) -
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report
por: Siavrienė, Evelina, et al.
Publicado: (2021) -
Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
por: Mahajan, Vinit B, et al.
Publicado: (2013) -
Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
por: Rowell, Hannah A, et al.
Publicado: (2012) -
Quantitative muscle MRI captures early muscle degeneration in calpainopathy
por: Forsting, Johannes, et al.
Publicado: (2022)