Publications by authors named "N Muelas"
Background: Distal myopathies (MPDs) are heterogeneous diseases of complex diagnosis whose prevalence and distribution in specific populations are unknown.
Methods: Demographic, clinical, genetic, neurophysiological, histopathological and muscle imaging characteristics of a MPDs cohort from a neuromuscular reference center were analyzed to study their epidemiology, features, genetic distribution and factors related to diagnosis.
Results: The series included 219 patients (61% were men, 94% Spanish and 41% sporadic cases).
Article Synopsis
- - The study focuses on diagnosing asymptomatic hyperCKemia in pediatric patients using next-generation sequencing (NGS) and other diagnostic tools, as genetic myopathies are often linked to elevated creatine kinase levels.
- - Conducted on 65 patients, the study found that NGS successfully diagnosed 55% of cases, with seven specific genes frequently showing pathogenic variants, while muscle biopsies were crucial for identifying myopathologic features.
- - The research highlighted the effectiveness of EMG in revealing myopathic features in 48% of cases, although some diagnostic challenges remained, with 14% and 29% of diagnoses being inconclusive.
Article Synopsis
- * Using CRISPR-Cas9, the researchers created a cell line from a DMD patient that mimics the del45-55 mutation, restoring dystrophin expression and improving myogenic properties.
- * The findings suggest that this approach can help develop better cellular models for studying DMD and understanding its underlying factors, which could inform future therapies.
Background And Purpose: Pathogenic variants of the glycyl-tRNA synthetase 1 (GARS1) gene have been described as a cause of Charcot-Marie-Tooth disease type 2D, motor axonal neuropathy with upper limb predominance (distal hereditary motor neuropathy [dHMN] type V), and infantile spinal muscular atrophy.
Methods: This cross-sectional, retrospective, observational study was carried out on 12 patients harboring the c.794C>T (p.
Background: Facioscapulohumeral muscular dystrophy is a hereditary progressive myopathy caused by aberrant expression of the transcription factor DUX4 in skeletal muscle. No approved disease-modifying treatments are available for this disorder. We aimed to assess the safety and efficacy of losmapimod (a small molecule that inhibits p38α MAPK, a regulator of DUX4 expression, and p38β MAPK) for the treatment of facioscapulohumeral muscular dystrophy.
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