Chapter 28 - Congenital and Other Structural Myopathies

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The congenital myopathies are a heterogeneous group of neuromuscular disorders defined by distinctive morphologic abnormalities of skeletal muscle with weakness and hypotonia. Clinical presentations range from fetal akinesia and neonatal lethality, to mild weakness with preserved ambulation, lifespan, and reproductive fitness. Intellectual abilities are unaffected and pathology is largely limited to skeletal muscle, although some forms include cardiomyopathy. Congenital myopathies can be broadly categorized into subgroups involving nemaline bodies (“rod myopathies”), central or minicores (“core myopathies”), centronuclear myopathies, and fiber type disproportions. Additional structural myopathies include myofibrillar and protein aggregation myopathies and vacuolar myopathies. More than two dozen different genes are implicated, including ones encoding components of the thin filament (nemaline myopathies), sarcomere (titinopathies), triads (centronuclear and core myopathies), and other structures. Most of these disorders are genetically heterogeneous, and many genes cause more than one clinicopathological presentation, making genetic diagnosis a critical adjunct to traditional clinical and pathological evaluations.

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