Clinical application of single ‐molecule optical mapping to a multigeneration FSHD1 pedigree

ConclusionBased on our findings, we propose that SMOM is a reliable and accurate technique suitable for the molecular diagnosis of FSHD1.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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The US Food and Drug Administration halts a study by Solid Biosciences after a patient experiences severe side effects following treatment.
Source: The Scientist - Category: Science Tags: News & Opinion Source Type: news
Dysferlinopathy is an autosomal recessive muscular dystrophy caused by mutations in the dysferlin gene, which encodes dysferlin [1]. The dysferlin gene is located on chromosome 2p13 and encompasses 55 exons spanning over 150  kb of genomic DNA [1,2].
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research
Duchenne muscular dystrophy (DMD) causes severe disability and death of young men due to progressive muscle degeneration aggravated by sterile inflammation. DMD is also associated with cognitive and bone-function impairments. This complex phenotype results from the cumulative loss of a spectrum of dystrophin isoforms expressed from the largest human gene. Although there is evidence for the loss of shorter isoforms having impact in the central nervous system, their role in muscle is unclear. We found that at eight weeks, the active phase of pathology in dystrophic mice, dystrophin-null mice (mdx βgeo) presented with a ...
Source: American Journal of Pathology - Category: Pathology Authors: Source Type: research
Conclusions: Arrhythmias in EDMD1 carriers poorly correlate on lymphocytes to a skewed XCI, probably due to (a) the different embryological origin of cardiac conduction tissue compared to lymphocytes or (b) the preferential loss of atrial cells replaced by fibrous tissue.
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
Authors: Li BT, Chen JX, Li HA, Huang XY PMID: 31698894 [PubMed - as supplied by publisher]
Source: Journal of Biological Regulators and Homeostatic Agents - Category: Biomedical Science Tags: J Biol Regul Homeost Agents Source Type: research
Publication date: Available online 8 November 2019Source: Artificial Intelligence in MedicineAuthor(s): Wenping Tang, Aiqun Wang, S. Ramkumar, Radeep Krishna Radhakrishnan NairAbstractParalyzed patients were increasing day by day. Some of the neurodegenerative diseases like amyotrophic lateral sclerosis, Brainstem Leison, Stupor and Muscular dystrophy affect the muscle movements in the body. The affected persons were unable to migrate. To overcome from their problem they need some assistive technology with the help of bio signals. Electrooculogram (EOG) based Human Computer Interaction (HCI) is one of the technique used in...
Source: Artificial Intelligence in Medicine - Category: Bioinformatics Source Type: research
The congenital muscular dystrophies and congenital myopathies are a heterogenous group of diseases with a wide variety of presentations and outcomes. With the growing understanding of genetic involvement, and developing therapies, having a genetically confirmed diagnosis with phenotype correlation is essential. To achieve this, a structured approach is warranted to each child to ensure that mimickers are excluded. By structuring the evaluation appropriately, the clinician can help expedite the evaluation of these infants in a cost-effective manner. Understanding the pitfalls of each step of testing will allow the clinician...
Source: Clinics in Perinatology - Category: Perinatology & Neonatology Authors: Source Type: research
Boston University researchers have developed a new, "intelligent" metamaterial -- which costs less than ten bucks to build -- that could revolutionize MRI, making the entire MRI process faster, safer, and more accessible to patients around the world. The technology, which builds on previous metamaterial work by the team, was described in a new paper in Advanced Materials. MRI is used by clinicians to diagnose medical problems by spotting abnormalities that could indicate anything from a torn meniscus to muscular dystrophy. But MRIs are expensive, expose patients to radiation, and they take a long time -- often th...
Source: MDDI - Category: Medical Devices Authors: Tags: Imaging R & D Source Type: news
Boston University researchers have developed a new, "intelligent" metamaterial -- which costs less than ten bucks to build -- that could revolutionize MRI, making the entire MRI process faster, safer, and more accessible to patients around the world. The technology, which builds on previous metamaterial work by the team, was described in a new paper in Advanced Materials. MRI is used by clinicians to diagnose medical problems by spotting abnormalities that could indicate anything from a torn meniscus to muscular dystrophy. But MRIs are expensive, and they take a long time -- often the greater part of an hour for ...
Source: MDDI - Category: Medical Devices Authors: Tags: Imaging R & D Source Type: news
ConclusionTwo of the other six families are from the same ethnicity and share the same mutation and haplotype patterns, suggesting a founder mutation. Genetic analysis of dysferlinopathy can prevent a wrong diagnosis of myositis for these patients.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
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