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Bioengineered Model of Human LGMD2B Skeletal Muscle Reveals Roles of Intracellular Calcium Overload in Contractile and Metabolic Dysfunction in Dysferlinopathy.
Adv Sci (Weinh)
August 2024
Department of Biomedical Engineering, Duke University, Durham, NC, 27708, USA.
Article Synopsis
- * Researchers have developed a 3-D skeletal muscle model called "myobundle" to study LGMD2B, showing issues in muscle contraction, calcium management, and metabolism.
- * Treatments with specific drugs were able to improve muscle function in the model, highlighting the role of calcium leak as a key factor in the disease and the usefulness of the myobundle model for understanding LGMD2B.
Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of Gene among Iranians with Muscular Dystrophy.
Adv Biomed Res
June 2023
Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Article Synopsis
- The study investigates limb-girdle muscular dystrophy (LGMD), focusing on genetic variations that cause different severities of the disease, particularly LGMD type 2B (LGMD2B).
- Nine patients and their relatives underwent whole-exome sequencing (WES) and Sanger sequencing to identify disease-causing mutations, leading to the classification of most variants as pathogenic.
- Eight variants were identified, including a novel frameshift mutation, with predictions indicating their likely damaging effects on the dysferlin protein, enhancing understanding and diagnosis of LGMD2B.
Dysferlinopathy, with mild cardiac involvement, from a novel mutation of DYSF gene.
QJM
June 2023
From the Department of Neurology, National Neuroscience Institute, 11 Jalan Tan Tock Seng, 308433, Singapore.
A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing.
Mol Genet Genomic Med
February 2023
Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Background: Dysferlinopathies are autosomal recessive muscular dystrophies resulting from defects in DYSF (MIM: 603009), which is located on chromosome 2p13 and encodes the dysferlin protein.
Methods: We performed exome sequencing and subsequent trio-based analysis in a family with dysferlinopathy.
Results: We report a young patient presenting with hyperCKemia and mild muscle weakness of the lower limbs.
Incidental Severe Fatty Degeneration of the Erector Spinae in a Patient with L5-S1 Disc Extrusion Diagnosed with Limb-Girdle Muscular Dystrophy R2 Dysferin-Related.
Diagnostics (Basel)
July 2020
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.
Limb-girdle muscular dystrophy type R2 dysferin-related (LGMD R2 dysferin-related), a phenotype of dysferlinopathy, usually begins with pelvic girdle weakness. A 35-year-old male presented with right leg pain for 2 weeks without a previous history of limb weakness. Magnetic resonance imaging of the lumbar spine showed disc extrusion at L5-S1 and incidental severe fatty degeneration of the lumbar erector spinae.
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