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A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis

Journal of Clinical Laboratory Analysis, EarlyView.
Source: Journal of Clinical Laboratory Analysis - Category: Laboratory Medicine Source Type: research

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Duchenne muscular dystrophy (DMD) is a lethal hereditary muscle disease caused by mutations in the gene encoding the muscle protein dystrophin. These mutations result in a shift in the open reading frame leading to loss of the dystrophin protein. Antisense oligonucleotides (ASOs) that induce exon skipping correct this frame shift during pre-mRNA splicing and partially restore dystrophin expression in mouse and dog models. We conducted a phase 1, open-label, dose-escalation clinical trial to determine the safety, pharmacokinetics, and activity of NS-065/NCNP-01, a morpholino ASO that enables skipping of exon 53. Ten patient...
Source: Science Translational Medicine - Category: Biomedical Science Authors: Tags: Research Articles Source Type: research
Researchers have found that large, fibrous aggregates thought to drive Lou Gehrig's disease might actually help to protect motor neurons.
Source: Parkinson's Disease News From Medical News Today - Category: Neurology Tags: Muscular Dystrophy / ALS Source Type: news
Researchers have found that large, fibrous aggregates thought to drive Lou Gehrig's disease might actually help to protect motor neurons.
Source: Health News from Medical News Today - Category: Consumer Health News Tags: Muscular Dystrophy / ALS Source Type: news
Muscle&Nerve, EarlyView.
Source: Muscle and Nerve - Category: Internal Medicine Authors: Source Type: research
LMNA encodes the A-type lamins that are part of the nuclear scaffold. Mutations in LMNA can cause a variety of disorders called laminopathies, including Hutchinson-Gilford progeria syndrome (HGPS), atypical Werner syndrome, and Emery-Dreifuss muscular dystrophy. Previous work has shown that treatment of HGPS cells with the mTOR inhibitor rapamycin or...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
Cardiac and respiratory function may be impaired in sarcoglycanopathies, a subgroup of muscular dystrophies due to sarcoglycans proteins ( α-, β-, γ-, and δ) genes mutations. Management of patients with restrictive respiratory failure mainly relies on home mechanical ventilation (HMV). Little is known about the cardiac effects of prolonged mechanical ventilation in patients with muscular dystrophy and restrictive respiratory insuff iciency. We aimed to assess the effects of HMV on cardiac function in sarcoglycanopathies.We retrospectively included 10 genetically proven patients with sarcoglycanopathy...
Source: The American Journal of Cardiology - Category: Cardiology Authors: Source Type: research
Obesity is a common problem in children and adolescents with neuromuscular disease. The available literature on obesity in cerebral palsy, spina bifida, and Duchenne muscular dystrophy as it relates to orthopedic treatment is reviewed, including the demographics and measurement of obesity as well as the mechanisms of obesity in these individuals. In addition, the effect of obesity on function, patient evaluation, and orthopedic treatment are reviewed.
Source: Orthopedic Clinics of North America - Category: Orthopaedics Authors: Source Type: research
Publication date: May 2018 Source:Stem Cell Research, Volume 29 Author(s): Binyamin Eisen, Ronen Ben Jehuda, Ashley J. Cuttitta, Lucy N. Mekies, Irina Reiter, Sindhu Ramchandren, Michael Arad, Daniel E. Michele, Ofer Binah Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle degenerative disease caused by mutations in the dystrophin gene. We generated induced pluripotent stem cells (iPSCs) from a 13-year-old male patient carrying a deletion mutation of exons 45–50; iPSCs were subsequently differentiated into cardiomyocytes. iPSCs exhibit expression of the pluripotent markers (SOX2, NANOG, OCT4), diffe...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Duchenne muscular dystrophy (DMD) is a severely progressive X-linked recessive neuromuscular disorder. It is caused by mutations in the dystrophin gene that result in absent or insufficient functional dystrophin protein, and manifests as progressive muscle degeneration and weakness with symptom onset between ages 3 and 5 years. The disease primarily affects boys and men, but in rare cases it can affect girls and women. Prevalence of DMD has been reported as one case per 5000 –6000 live male births.
Source: Lancet Neurology - Category: Neurology Authors: Tags: Comment Source Type: research
Publication date: June 2018 Source:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, Volume 1864, Issue 6, Part A Author(s): Eun-Bee Cho, Wonjin Yoo, Sungjoo Kim Yoon, Jong-Bok Yoon Dystroglycan is a ubiquitous membrane protein that functions as a mechanical connection between the extracellular matrix and cytoskeleton. In skeletal muscle, dystroglycan plays an indispensable role in regulating muscle regeneration; a malfunction in dystroglycan is associated with muscular dystrophy. The regulation of dystroglycan stability is poorly understood. Here, we report that WWP1, a member of NEDD4 E3 ubiquitin ligase...
Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease - Category: Molecular Biology Source Type: research
More News: China Health | Laboratory Medicine | Muscular Dystrophy | Reflex Sympathetic Dystrophy