Cargando…
LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation
Autosomal dominant LGMD1D has been described in multiple families in Asia, Europe, and USA. However, to the best of our knowledge, no cases of LGMD1D have been reported among native Bedouin Saudi families. Fifty Saudi families with LGMD were analyzed and the causative underlying genes were studied u...
Autores principales: | BOHLEGA, SAEED A., ALFAWAZ, SARAH, ABOU-AL-SHAAR, HUSSAM, AL-HINDI, HINDI N., MURAD, HATEM N., BOHLEGA, MOHAMED S., MEYER, BRIAN F., MONIES, DOROTA |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Pacini Editore srl
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390114/ https://www.ncbi.nlm.nih.gov/pubmed/30838352 |
Ejemplares similares
-
Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia
por: Alharbi, Norah, et al.
Publicado: (2022) -
Clinical and genetic features of anoctaminopathy in Saudi Arabia
por: Bohlega, Saeed, et al.
Publicado: (2015) -
Ultrasound-guided botulinum toxin A injection in the treatment of belly dancer’s dyskinesia
por: Alshubaili, Asmahan, et al.
Publicado: (2016) -
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
por: Bohlega, Saeed A., et al.
Publicado: (2016) -
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies
por: Monies, Dorota, et al.
Publicado: (2016)