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Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
TLDR
The central goals were to improve the genetic diagnosis of LGMD, investigate whether the WES platform provides adequate coverage of known LGMD-related genes, and identify new LGMD -related genes.
Evaluation and construction of diagnostic criteria for inclusion body myositis
TLDR
This study provides Class II evidence that published expert consensus–derived IBM diagnostic categories accurately distinguish IBM from other muscle disease with high specificity but wide-ranging sensitivities.
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy
TLDR
Patients can develop a myopathy with histologic features of myofibrillar myopathic with aggregates and rimmed vacuoles, similar to the pathology in myopathies due to gene defects in other compounds of the CASA complex such as BAG3 and DNAJB6 after developing the early neurogenic effects.
Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease
TLDR
This prospective study establishes serum FGF-21 levels as a sensitive biomarker of mitochondrial disease and demonstrates that they are the best predictor of this disorder when compared to serum levels of classical indicators: creatine kinase, lactate, pyruvate, and the lactate to pyruVate ratio.
Necrotizing autoimmune myopathy
TLDR
It is important to recognize and distinguish NAM from other causes of myocyte necrosis, because it has the potential of being amenable to treatment, and may provide a useful diagnostic test in the future, to help differentiate immune from nonimmune statin myopathies.
Update on Toxic Myopathies
TLDR
The current update focuses on the mechanisms of statin myotoxicity and the importance of genetic predisposing factors for statinmyopathy, as well as the recently described form of necrotizing autoimmune myopathy, which is associated with antibodies to the 3-hydroxy-3-methylglutaryl-coenzyme A reductase enzyme and is responsive to aggressive immunotherapy.
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