title: Myofibrillar and distal myopathies.
abstract: Distal myopathies and myofibrillar myopathies are both rare subcategories of muscle diseases. Myofibrillar myopathies are genetically heterogeneous group of diseases characterized by distinctive histopathology of abnormal protein aggregations and myofibrillar disintegration. All genes causing myofibrillar myopathy encode proteins that either reside in or associate with the Z-disc. Distal myopathies are also genetically heterogeneous muscular dystrophies in which muscle weakness presents distally in the feet and/or hands. A subgroup of distal myopathies, desminopathy, distal myotilinopathy, ZASPopathy and alpha-B crystallin-mutated distal myopathy, belong to myofibrillar myopathies and show similar pathological changes in muscle biopsies. Common features of these diseases are dominant inheritance and adult-onset of symptoms starting in the feet and slowly progressing to encompass other muscle groups. Cardiomyopathy is not a common feature in distal MFM myopathies.
authors.affiliation: Tampere University and University Hospital, Neuromuscular Research Center, Neurology, 33014 Tampere, Finland. Electronic address: johanna.palmio@uta.fi.
authors.forename: J
authors.initials: J
authors.lastname: Palmio
authors.affiliation: Tampere University and University Hospital, Neuromuscular Research Center, Neurology, 33014 Tampere, Finland; University of Helsinki, Haartman Institute, Folkhälsan Institute of Genetics and the Department of Medical Genetics, Helsinki, Finland; Vasa Central Hospital, Department of Neurology, Vasa, Finland.
authors.forename: B
authors.initials: B
authors.lastname: Udd
mesh_terms: D049310:Distal Myopathies / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D009210:Myofibrils / Q000378:metabolism / Q000473:pathology*
keywords: Alpha-B crystallin; Desmin; Distal myopathies; Myofibrillar myopathy; Myotilin; ZASPopathy