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    Chapter

    Myopathies with Myofibrillar Pathology

    Myofibrillar pathology refers to a series of muscle histopathological abnormalities resulting from myofibrillar dissolution beginning at the Z-discs, leading to accumulation of myofibrillar degradation product...

    Pitcha Chompoopong… in Principles and Practice of the Muscular Dystrophies (2023)

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    Chapter

    Necrotizing Autoimmune Myopathy

    Necrotizing autoimmune myopathy (NAM) is categorized as one of the idiopathic immune-mediated myopathies. It is characterized by subacute predominantly proximal weakness, elevated serum creatine kinase, and a ...

    Charles Kassardjian, Margherita Milone in Acquired Neuromuscular Disorders (2022)

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    Chapter

    Necrotizing Autoimmune Myopathy

    Necrotizing autoimmune myopathy (NAM) is categorized as one of the idiopathic immune-mediated myopathies. It is characterized by subacute predominantly proximal weakness, elevated serum creatine kinase, and a ...

    Charles Kassardjian, Margherita Milone in Acquired Neuromuscular Disorders (2016)

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    Chapter

    Frequently Asked Questions About the Clinical Utility of Next-Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases

    Before the advent of next-generation massively parallel sequencing (MPS), Sanger sequencing for many years has been the gold standard for the identification of unknown mutations in candidate genes. However, si...

    Ephrem L. H. Chin, Victor Wei Zhang, **g Wang… in Next Generation Sequencing (2013)

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    Chapter

    Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1)

    Mitochondrial DNA (mtDNA) replicates continuously. The minimal mitochondrial replisome consists of the DNA polymerase gamma (pol g), the mtDNA helicase Twinkle, and the mitochondrial single-stranded binding pr...

    Margherita Milone in Mitochondrial Disorders Caused by Nuclear Genes (2013)