Cargando…
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort
BACKGROUND AND PURPOSE: Studies of cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe amplification (MLPA) have determined the clinical characteristics, genotype, and relations between the reading frame and phenotype for dif...
Autores principales: | Vengalil, Seena, Preethish-Kumar, Veeramani, Polavarapu, Kiran, Mahadevappa, Manjunath, Sekar, Deepha, Purushottam, Meera, Thomas, Priya Treesa, Nashi, Saraswathi, Nalini, Atchayaram |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Korean Neurological Association
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242159/ https://www.ncbi.nlm.nih.gov/pubmed/28079318 http://dx.doi.org/10.3988/jcn.2017.13.1.91 |
Ejemplares similares
-
Palliative Care in Duchenne Muscular Dystrophy: A Study on Parents' Understanding
por: Sadasivan, Arun, et al.
Publicado: (2021) -
Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy
por: Mhatre, Radhika, et al.
Publicado: (2021) -
MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India
por: Deepha, Sekar, et al.
Publicado: (2017) -
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients
por: Unnikrishnan, Gopikrishnan, et al.
Publicado: (2023) -
Epilepsy Characteristics in Duchenne and Becker Muscular
Dystrophies
por: Ramani, Praveen Kumar, et al.
Publicado: (2023)