Congenital myopathies.
This review focuses on congenital myopathies, a distinct but markedly heterogeneous group of muscle disorders that present with muscle weakness and typically appear at birth or in infancy. These myopathies have characteristic histopathologic abnormalities on muscle biopsy, allowing a preliminary morphologic classification. Advances in molecular genetics have allowed a more rational classification of these disorders and have reshuffled taxonomy for some of these conditions. Here, we focus on recent research advances in specific congenital myopathies, including nemaline myopathy, myotubular myopathy, centronuclear myopathy, central core myopathy, multi-minicore myopathy, congenital fiber-type disproportion myopathy, and hyaline body myopathy. Scientific progress has not only elucidated the pathologic mechanisms of these disorders, but it has also provided the basis for therapeutic strategies.
D'Amico
Adele
A
Ospedale Bambino Gesù Research Chidren's Hospital, P.za S. Onofrio, 4, 00165 Rome, Italy.
Bertini
Enrico
E
D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods / Q000639:trends; D006801:Humans; D008967:Molecular Biology / Q000379:methods / Q000639:trends; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D009124:Muscle Proteins / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics; D020914:Myopathies, Structural, Congenital / Q000145:classification* / Q000175:diagnosis* / Q000628:therapy
D009124:Muscle Proteins