Results 41 to 50 of about 7,623 (172)
DiagnosticsBackground and Clinical Significance: Limb-girdle muscular dystrophy R18 is a rare autosomal recessive disorder that may present with both muscular and hepatic involvement, potentially leading to diagnostic confusion.
Yen-Ting Chou +2 more
doaj +1 more source
Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update
Indian Journal of Pathology and Microbiology, 2022 Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah +2 more
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Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient‐reported outcome (PRO) measures. This study aimed to conceptualize the patient experience of BMD and evaluate content validity and perceptions of meaningful changes of ...
Abby Bronson +6 more
wiley +1 more source
Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B
Nature Communications, 2019 Fibroadipogenic precursor cells (FAPs) contribute to fibrosis and adipogenic replacement in muscular dystrophies. Here, the authors show that FAPs contribute to adipogenic loss in mouse models of limb girdle muscular dystrophy 2B via a mechanism ...
Marshall W. Hogarth +7 more
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RNA Biology, 2022 Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some ...
Andrea C. Kakouri +17 more
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Genetic analysis of muscular dystrophies: our experience in Mexico
Folia Neuropathologica, 2021 Muscular dystrophies are a group of well-defined genetic disorders characterized by the variable distribution of muscle wasting and progressive weakness.
Rosa Elena Escobar-Cedillo +9 more
doaj +1 more source
With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies
Neurology and Clinical Neuroscience, EarlyView.ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley +1 more source
Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy
PROTEOMICS, EarlyView.ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling +6 more
wiley +1 more source
Distinctive serum miRNA profile in mouse models of striated muscular pathologies.
PLoS ONE, 2013 Biomarkers are critically important for disease diagnosis and monitoring. In particular, close monitoring of disease evolution is eminently required for the evaluation of therapeutic treatments.
Nicolas Vignier +14 more
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The FEBS Journal, EarlyView.Trim32 regulates the transition from proliferation to differentiation in C2C12 cells after myogenic induction. We found that, at the onset of differentiation, Trim32 destabilizes c‐Myc mRNA, promotes cell cycle exit, and enables normal myotube formation.
Lu Xiong +6 more
wiley +1 more source