Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient

Respiratory failure manifests relatively late in the course of many muscle disorders, generally after a severe and generalized muscle weakness has taken place. When it occurs early in a neuromuscular patient, amyotrophic lateral sclerosis and myasthenia gravis are the most frequent conditions. Alternatively, few muscle disorders can be considered, such as late-onset Pompe disease, myotonic dystrophy type 1, myofibrillar myopathies, hereditary myopathy with early respiratory failure associated with mutations of titin gene and congenital myopathies, such as MTM1-related myotubular myopathy, RYR1- and DNM2-related myopathies or nemaline myopathies (1,2).

Source: Neuromuscular Disorders - March 5, 2021 Category: Neurology Authors: Antonio Petrucci, Guido Primiano, Marco Savarese, Cristina Sancricca, Bjarne Udd, Serenella Servidei Source Type: research