Cardiomyopathy in Muscular Dystrophy: When to Treat?
Sign Up to like & getrecommendations! Published in 2017 at "JAMA cardiology"
DOI: 10.1001/jamacardio.2016.4910
Abstract: Duchenne muscular dystrophy (DMD) is a rare, X-linked condition with progressive muscle weakness and accompanying cardiomyopathy. Cardiovascular magnetic resonance (CMR) has proved particularly useful for monitoring the earliest signs of cardiac involvement in DMD, including… read more here.
Keywords: dmd; fibrosis; cardiology; muscular dystrophy ... See more keywords
Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2021.44178
Abstract: This nonrandomized controlled trial examines efficacy of vamorolone treatment for Duchenne muscular dystrophy among boys compared with glucocorticoid treatment. read more here.
Keywords: efficacy safety; duchenne muscular; safety vamorolone; muscular dystrophy ... See more keywords
Alternative utrophin mRNAs contribute to phenotypic differences between dystrophin‐deficient mice and Duchenne muscular dystrophy
Sign Up to like & getrecommendations! Published in 2018 at "Febs Letters"
DOI: 10.1002/1873-3468.13099
Abstract: Duchenne muscular dystrophy (DMD) is a fatal disorder caused by absence of functional dystrophin protein. Compensation in dystrophin‐deficient (mdx) mice may be achieved by overexpression of its fetal paralogue, utrophin. Strategies to increase utrophin levels… read more here.
Keywords: mice; muscular dystrophy; dystrophin deficient; duchenne muscular ... See more keywords
Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51417
Abstract: To understand the natural disease upper limb progression over 3 years of ambulatory and non‐ambulatory patients with Duchenne muscular dystrophy (DMD) using functional assessments and quantitative magnetic resonance imaging (MRI) and to exploratively identify prognostic… read more here.
Keywords: patients duchenne; muscular dystrophy; disease; upper limb ... See more keywords
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51612
Abstract: Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites. We enrolled 10 unrelated families: nine had muscular… read more here.
Keywords: dystrophy; muscular dystrophy; read sequencing; capabilities nanopore ... See more keywords
Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51665
Abstract: Mutations in the prion‐like domain of RNA binding proteins cause dysfunctional stress responses and associated aggregate pathology in patients with neurogenic and myopathic phenotypes. Recently, mutations in ANXA11 have been reported in patients with amyotrophic… read more here.
Keywords: dominant muscular; adult onset; onset dominant; muscular dystrophy ... See more keywords
The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51733
Abstract: Oculopharyngeal muscular dystrophy (OPMD) is a late‐onset inherited neuromuscular disorder, with progressive ptosis and dysphagia as common manifestations. To date, OPMD has rarely been reported among East Asians. The present study summarizes the phenotypic and… read more here.
Keywords: phenotypic genotypic; muscular dystrophy; chinese patients; oculopharyngeal muscular ... See more keywords
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Neurology"
DOI: 10.1002/ana.25620
Abstract: The Popeye domain containing 3 (POPDC3) gene encodes a membrane protein involved in cyclic adenosine monophosphate (cAMP) signaling. Besides gastric cancer, no disease association has been described. We describe a new muscular dystrophy associated with… read more here.
Keywords: popdc3 gene; gene variants; muscular dystrophy; variants associate ... See more keywords
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Neurology"
DOI: 10.1002/ana.25772
Abstract: A hitherto undescribed phenotype of early onset muscular dystrophy associated with sensorineural hearing loss and primary ovarian insufficiency was initially identified in 2 siblings and in subsequent patients with a similar constellation of findings. The… read more here.
Keywords: hearing loss; muscular dystrophy; ovarian insufficiency;
Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population-based surveillance of major muscular dystrophies at four U.S. sites, 2007-2011.
Sign Up to like & getrecommendations! Published in 2018 at "Birth defects research"
DOI: 10.1002/bdr2.1371
Abstract: BACKGROUND For 10 years, the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) conducted surveillance for Duchenne and Becker muscular dystrophy (DBMD). We piloted expanding surveillance to other MDs that vary in severity, onset,… read more here.
Keywords: research; surveillance; muscular dystrophy; dystrophy ... See more keywords
Immunobiology of Inherited Muscular Dystrophies.
Sign Up to like & getrecommendations! Published in 2018 at "Comprehensive Physiology"
DOI: 10.1002/cphy.c170052
Abstract: The immune response to acute muscle damage is important for normal repair. However, in chronic diseases such as many muscular dystrophies, the immune response can amplify pathology and play a major role in determining disease… read more here.
Keywords: many muscular; response; muscle; muscular dystrophy ... See more keywords