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Titinopathy should be considered in myofibrillar myopathy with respiratory muscle involvement regardless of ethnic background
Respiratory failure in adult myopathy patients is rare. Nevertheless, it is often a characteristic clinical feature that can be a clue for the diagnosis of a certain group of muscle diseases, including Pompe disease and congenital myopathy. Two reports by Palmio et al1 and Pfeffer et al2 suggest that hereditary myopathy with early respiratory failure (HMERF) may not be rare and is distributed worldwide.
HMERF was first described as adult-onset myopathy with acute …