Cargando…
Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness
Congenital myasthenic syndromes are a heterogeneous group of genetically determined disorders characterized by impaired neuromuscular transmission. They usually present from birth to childhood and are characterised by exercise induced weakness and fatigability. Genotype-phenotype correlations are di...
Autores principales: | Evangelista, Teresinha, Hanna, Mike, Lochmüller, Hanns |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
IOS Press
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746746/ https://www.ncbi.nlm.nih.gov/pubmed/26870666 http://dx.doi.org/10.3233/JND-150098 |
Ejemplares similares
-
Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK–Congenital Myasthenic Syndrome
por: Pinto, Marcus V., et al.
Publicado: (2019) -
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
por: Gallenmüller, Constanze, et al.
Publicado: (2014) -
A novel DOK7 mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members
por: Alsallum, Mohammed S., et al.
Publicado: (2021) -
Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes
por: Azuma, Yoshiteru, et al.
Publicado: (2017) -
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients
por: McMacken, Grace, et al.
Publicado: (2017)