hereditary myopathy with early respiratory failure
hereditary myopathy with early respiratory failure
An autosomal dominant adult-onset myopathy (OMIM:603689) characterised by early proximal weakness of the upper and lower extremities accompanied by respiratory muscle involvement, especially of the diaphragm.Molecular pathology
Defects of TTN, which encodes a critical protein in striated muscle, cause hereditary myopathy with early respiratory failure.