Congenital myopathies: clinical phenotypes and new diagnostic tools.
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis.
['Cassandrini|Denise|D|', 'Trovato|Rosanna|R|', 'Rubegni|Anna|A|', 'Lenzi|Sara|S|', 'Fiorillo|Chiara|C|', 'Baldacci|Jacopo|J|', 'Minetti|Carlo|C|', 'Astrea|Guja|G|', 'Bruno|Claudio|C|', 'Santorelli|Filippo M|FM|', '|||']
D001707:Biopsy, Needle D018450:Disease Progression D005260:Female D020022:Genetic Predisposition to Disease D005838:Genotype D006801:Humans D007150:Immunohistochemistry D015994:Incidence D008279:Magnetic Resonance Imaging D008297:Male D009136:Muscular Dystrophies D017696:Myopathies, Nemaline D011379:Prognosis D018570:Risk Assessment D012720:Severity of Illness Index
Congenital myopathy Muscle biopsy Muscle MRI Next generation sequencing