Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants

A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous FKRP variants: c.169G>A (p.Glu57Lys) and c.692G>A (p.Trp231*). These results indicated that the patient had limb-girdle muscular dystrophy type 2I (LGMD2I) ca...

Descripción completa

Detalles Bibliográficos
Autores principales: Okazaki, Tetsuya, Matsuura, Kaori, Kasagi, Noriko, Adachi, Kaori, Kai, Masachika, Okubo, Mariko, Nishino, Ichizo, Nanba, Eiji, Maegaki, Yoshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171098/
https://www.ncbi.nlm.nih.gov/pubmed/32351701
http://dx.doi.org/10.1038/s41439-020-0099-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171098/
https://www.ncbi.nlm.nih.gov/pubmed/32351701
http://dx.doi.org/10.1038/s41439-020-0099-x

Ejemplares similares