Cargando…
Fukuyama Congenital Muscular Dystrophy
Congenital muscular dystrophy (CMD) is a heterogeneous group of neurological disorders presenting at birth with weakness and hypotonia. Although the diagnosis is finally made through patterns of inheritance and muscle biopsy, the final imaging can be very characteristic in some of the variants, part...
Autores principales: | Agarwal, Amit, Sabat, Shyamsunder, Kanekar, Sangam |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8901159/ https://www.ncbi.nlm.nih.gov/pubmed/35273857 http://dx.doi.org/10.7759/cureus.21902 |
Ejemplares similares
-
Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy
por: Murakami, Terumi, et al.
Publicado: (2021) -
Author Correction: Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy
por: Murakami, Terumi, et al.
Publicado: (2022) -
Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan
por: Saito, Fumiaki, et al.
Publicado: (2011) -
Hippocampal Changes in Febrile Infection-Related Epilepsy Syndrome (FIRES)
por: Agarwal, Amit, et al.
Publicado: (2015) -
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy
por: Taniguchi-Ikeda, Mariko, et al.
Publicado: (2011)