Myofibrillar myopathy with Early Respiratory Failure Edstrom myopathy Myopathy with Proximal Weakness, Early Respiratory Failure & Cytoplasmic aggregates Necklace body myopathy Epidemiology: > 30 families Genetics TTN mutations Missense Common: . May 11, 2017 · Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle disorder, characterized by the presence of nemaline rods in muscle fibers. Phenotypic characterization in a large cohort and a comprehensive overview of SLONM are lacking. We studied the clinico-pathological features, treatment and outcome in a large cohort of 76 patients with SLONM, comprising 10 new Cited by: 15.
An early age of onset with a relatively longer duration of disease suggests an inherited myopathy, and a sudden or subacute presentation at a later age is more consistent with an acquired myopathy. Inherited myopathies can be further subclassified as muscular dystrophies, congenital myopathies, mitochondrial myopathies, and metabolic myopathies. Seitz RJ, Toyka KV, Wechsler W. Adult-onset mixed myopathy with nemaline rods, minicores, and central cores: a muscle disorder mimicking polymyositis. J Neurol. 1984; 231 (3):103–108. Miura H, Kannari K, Kashiwamura H, Nonaka I. [A patient of late-onset nemaline myopathy with Cited by: 194.
Mixed myofibrillar myopathies of this type have so far only been described among the group of congenital myopathies. Key words Adult-onset mixed myopathy Nemaline myopathy Minicore disease Central core disease PolymyositisCited by: 20. Adult-onset mixed myopathy with nemaline rods, minicores, and central cores: a muscle disorder mimicking polymyositis. Seitz RJ, Toyka KV, Wechsler W. A woman, aged 75 years, presented with a 15-year history of progressive, generalized, painful muscle weakness and wasting. Clinical and laboratory investigation revealed a sporadic muscle disorder.Cited by: 20.