Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing [PDF]
Medicine, 2020 Abstract Rationale: The limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of disorders characterized by progressive proximal muscle weakness and have more than 30 different subtypes linked to specific gene loci, which manifest as highly overlapping and heterogeneous phenotypes.
Sook Joung Lee +3 more
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Next-generation sequencing identified a novel DYSF variant in a patient with limb-girdle muscular dystrophy type 2B [PDF]
Medicine, 2020 Limb-girdle muscular dystrophy (LGMD) is a genetic disease, which is characterized by muscle atrophy and weakness mainly involving proximal muscles. Accurate diagnosis of LGMD patient is very important for the appropriate management and long-term prognosis.An 18-year-old woman presented with progressive weakness of limbs, persistent elevated serum ...
Li, Qiao +3 more
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Limb-Girdle Muscular Dystrophy Type 2B and Morbihan Disease: A Case Report With an Atypical Presentation [PDF]
CureusThis case report presents a 38-year-old man with no significant medical history who was referred to the Internal Medicine Department due to dermatosis and muscle weakness. A multidisciplinary diagnostic approach was initiated, including laboratory, imaging, and even histopathological studies. No definitive diagnosis was obtained.
Briceño Moya, Fernando +2 more
openaire +3 more sources
Initial presentation with elevated transaminases and subsequent hematuria in limb-girdle muscular dystrophy type 2B: A case report [PDF]
MedicineRationale: Limb-girdle muscular dystrophy type 2B (LGMD2B) is a degenerative muscle disorder induced by mutations in the dysferlin gene. Dysferlin is involved in membrane repair and vesicle fusion through its 7 C2 calcium-binding domains, which mediate these calcium-dependent processes.
Zhenhua Ji +5 more
openaire +4 more sources
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies [PDF]
Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +2 more sources
Current Topics of Progressive Cardiac Conduction Disease [PDF]
Journal of Arrhythmia, Volume 42, Issue 3, June 2026.Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Naokata Sumitomo +7 more
wiley +2 more sources
CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy [PDF]
Pediatric Investigation, Volume 10, Issue 1, Page 25-37, February 2026.Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo +18 more
wiley +2 more sources
Ryanodine Receptor Ca2+ Leak‐Induced Redistribution of Ca2+ in Dystrophic mdx Mouse Muscle [PDF]
Acta Physiologica, Volume 242, Issue 6, June 2026.ABSTRACT Aim The dystrophic mdx mouse is a widely used model of Duchenne muscular dystrophy. Altered Ca2+ handling is a key feature, including increased Ca2+ leak through the ryanodine receptor (RyR1's), the primary Ca2+ release channel in skeletal muscle. Such leak has important downstream consequences for intracellular Ca2+ homeostasis.
Rhayanna B. Gaglianone +5 more
wiley +2 more sources
Fetal Presentation of Walker–Warburg Syndrome With a Novel POMT1 Splice‐Altering Variant: Antenatal Imaging, Postmortem MRI, Autopsy, and Molecular Correlation [PDF]
Clinical Case Reports, Volume 14, Issue 5, May 2026.ABSTRACT Walker–Warburg syndrome (WWS) is a fatal autosomal recessive disorder characterized by brain and eye malformations, and prenatal diagnosis relies heavily on neuroimaging findings to guide targeted genetic screening. Here, we describe a distinctive second‐trimester fetal imaging pattern observed in two siblings.
Jing Zhang +8 more
wiley +2 more sources