welcome to DuchenneXchange
- a positively charged Duchenne muscular dystrophy community.- join today!
- log in
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies
source: Muscle & nerve
year: 2017
authors: Zhong J, Xu T, Chen G, Liao H, Zhang J, Lan D
summary/abstract:Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked myopathies caused by mutations of the dystrophin gene.Multiplex ligation-dependent probe amplification (MLPA) combined with next-generation sequencing (NGS) of the exons of the dystrophin gene were performed in 92 suspected DMD/BMD patients. Patients with negative results were subjected to additional muscle diseases panel tests. DNA rearrangements were detected in 65 (70.65%) patients using MLPA. The deletions primarily clustered at exons 45-55, followed by exons 2-19. The duplication locations were in contrast to previous studies, which involved the 3′ end of the gene. A total of 21 cases with point mutations were detected by NGS analysis. Furthermore, 6 previously unreported mutations were detected. Limb-girdle muscular dystrophy was confirmed in 2 patients after analysis with the muscle diseases panel. MLPA combined with NGS was effective for detection of the mutations in dystrophin gene exons. Muscle Nerve 56: 117-121, 2017.
organization: The First Affiliated Hospital of Guangxi Medical University, ChinaDOI: 10.1002/mus.25435
read more full text source
rareRelated
-
eDystrophin : A Database Dedicated to Human Dystrophin VariantseDystrophin is a database dedicated to h...
-
A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who H...This study is designed to generate addit...
-
PTC Therapeutics Announces Initial Data from Patient Registry Demonstrating Translarna™ (ataluren) Slows Disease P...PTC Therapeutics, Inc. today announced p...
-
A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)This study is designed to evaluate the a...
-
DMD Gene: DystrophinDMD, the largest known human gene, provi...
-
Exon Skipping Explained from Sarepta Therapeuticshttps://player.vimeo.com/video/238953537...
-
Association between specific dystrophin gene mutations and myocardial fibrosis by cardiovascular magnetic resonance ...Background Duchenne (DMD) and Becker (B...