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- W2023166695 abstract "Abstract Myofibrillar myopathies (MFMs) are histopathologically characterized by desmin‐positive protein aggregates and myofibrillar degeneration. Because of the marked phenotypic and pathomorphological variability, establishing the diagnosis of MFM can be a challenging task. While MFMs are partly caused by mutations in genes encoding for extramyofibrillar proteins (desmin, αB‐crystallin, plectin) or myofibrillar proteins (myotilin, Z‐band alternatively spliced PDZ‐containing protein, filamin C, Bcl‐2‐associated athanogene‐3, four‐and‐a‐half LIM domain 1), a large number of these diseases are caused by still unresolved gene defects. Although recent years have brought new insight into the pathogenesis of MFMs, the precise molecular pathways and sequential steps that lead from an individual gene defect to progressive muscle damage are still unclear. This review focuses on the clinical and myopathological aspects of genetically defined MFMs, and shall provide a diagnostic guide for this numerically significant group of protein aggregate myopathies." @default.
- W2023166695 created "2016-06-24" @default.
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- W2023166695 date "2009-06-10" @default.
- W2023166695 modified "2023-10-18" @default.
- W2023166695 title "Myofibrillar Myopathies: A Clinical and Myopathological Guide" @default.
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- W2023166695 doi "https://doi.org/10.1111/j.1750-3639.2009.00289.x" @default.
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