Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7929533 | PMC |
| http://dx.doi.org/10.1097/CM9.0000000000001343 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2.
J Cachexia Sarcopenia Muscle
August 2025
Department of Anesthesiology, Pharmacology & Therapeutics, University of British Columbia (UBC), Vancouver, Canada.
Background: Limb-girdle muscular dystrophy (MD) type R2 (LGMDR2, formerly LGMD2B) is an autosomal recessive form of MD caused by variants in the dysferlin gene, DYSF. It leads to slow proximal and distal muscle weakening that generally results in loss of ambulation around early adulthood but without the lethal cardiorespiratory dysfunction observed in the more severe Duchenne MD. How loss of dysferlin causes muscle fibre death is poorly understood, but recent evidence suggests a link between muscle wasting and loss of muscle cholesterol homeostasis with circulating lipoprotein abnormalities in many forms of MD.
View Article and Find Full Text PDFClinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort.
BMC Neurol
September 2024
Department of Internal Medicine, College of Medicine, King Saud University, PO Box 7805, Riyadh, 11472, Saudi Arabia.
Article Synopsis
- * Out of 87 patients, limb-girdle muscular dystrophy (LGMD) was the most common diagnosis, with 68% of tested patients achieving a genetic diagnosis, primarily identifying dysferlinopathy and FKRP-related disorders.
- * The study emphasizes the importance of various molecular genetic testing methods, particularly noting their success rates, and advocates for better access to advanced testing for conditions like FSHD and mitochondrial myopathies.
Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy.
Neuromuscul Disord
October 2024
The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon, Tyne, United Kingdom. Electronic address:
Dysferlin-deficient limb girdle muscular dystrophy (LGMD R2), also referred to as dysferlinopathy, can be associated with respiratory muscle weakness as the disease progresses. Clinical practice guidelines recommend biennial lung function assessments in patients with dysferlinopathy to screen for respiratory impairment. However, lack of universal access to spirometry equipment and trained specialists makes regular monitoring challenging.
View Article and Find Full Text PDFBrain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies.
Sci Rep
August 2024
Jessenius Faculty of Medicine in Martin, Biomedical Centre Martin, Comenius University in Bratislava, Mala Hora 4D, 03601, Martin, Slovakia.
Article Synopsis
- Miyoshi myopathy/dysferlinopathy (MMD) is a rare muscle disease linked to mutations in the DYSF gene, which also affects the brain's structure and function, although this impact hasn't been fully studied.
- Using MRI techniques, a family study revealed significant differences in the brain of MMD patients, including an asymmetrical increase in the size of their inferior lateral ventricles and notable decreases in magnesium levels and energy metabolism in brain regions like the hippocampus.
- Following a month of magnesium supplementation, the MMD patients showed improvements, suggesting potential benefits and calling for more research into the brain functions of MMD patients and further testing of magnesium therapy.
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.
Neurology
August 2024
From the UOC di Neurologia (S. Bortolani, G.P., C.S., M.L., M. Mirabella, S.S., M. Monforte, E.R., G.T.), Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome; Department of Neurosciences Rita Levi Montalcini (S. Bortolani, T.E.M.), University of Torino, Italy; Folkhälsan Research Center (
Article Synopsis
- The study focuses on diagnosing myofibrillar myopathies (MFM) and distal myopathies (DM), addressing the complexity due to numerous causative genes and overlapping symptoms.
- It involves a retrospective analysis of data from 132 MFM and 298 DM patients collected from various neuromuscular centers, highlighting demographic, genetic, and clinical details.
- Results indicate that 63% of patients had molecular confirmation of their condition, with significant findings including common pathogenic variants and varying ages of onset, as well as notable cardiac and respiratory complications linked to specific genetic variants.