Τίτλος:
Update on congenital myopathies in adulthood
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ever-increasing application of modern genetic technologies has not just improved our understanding of their pathophysiology, but also expanded their phenotypic spectrum and contributed to a more genetically based approach for their classification. Later onset forms of CMs are increasingly recognised. They are often considered milder with slower progression, variable clinical presentations and different modes of inheritance. We reviewed the key features and genetic basis of late onset CMs with a special emphasis on those forms that may first manifest in adulthood. © 2020 by the authors. Licensee MDPI, Basel, Switzerland.
Συγγραφείς:
Papadimas, G.K.
Xirou, S.
Kararizou, E.
Papadopoulos, C.
Περιοδικό:
International Journal of Molecular Sciences
Λέξεις-κλειδιά:
creatine kinase; desmin; myosin heavy chain; selenoprotein; troponin, cardiovascular magnetic resonance; cell differentiation; disease severity; electromyography; enzyme activity; gastrocnemius muscle; gene control; gene expression; gene identification; gene mutation; genetic variation; heart contraction; heterozygosity; histology; human; limb weakness; masticatory muscle; muscle atrophy; muscle biopsy; muscle cell; muscle weakness; myopathy; neuromuscular junction; nuclear magnetic resonance imaging; oxidative stress; pathophysiology; phenotype; Review; semimembranosus muscle; tachycardia; adult; classification; female; genetics; late onset disorder; male; myopathy; pathophysiology, Adult; Female; Humans; Late Onset Disorders; Male; Myopathies, Structural, Congenital
DOI:
10.3390/ijms21103694
