title: A novel desmin R355P mutation causes cardiac and skeletal myopathy.
abstract: A novel desmin R355P mutation has been identified in a patient with familial cardiac and skeletal myopathy. Two types of desmin storage were observed in the skeletal muscles. The spheroid-like bodies dominated in type 2 fibres while extensive accumulation of granulofilamentous material was found in type 1 fibres and in cardiomyocytes. A novel missense mutation R355P in the rod domain located in the C-terminal part of the 2B subunit is the eighth missense mutation, which changes the original aminoacid into proline. Proline is known to disrupt the alpha-helix and distort a unique stutter sequence that is critically important for proper filament assembly.
authors: Neuromuscular Unit, MRC, Polish Academy of Science, Pawinskiego 5, Warsaw 02-106, Poland. neurmyol@cmdik.pan.pl
authors: Anna
authors: A
authors: Fidziańska
authors: Jerzy
authors: J
authors: Kotowicz
authors: Marta
authors: M
authors: Sadowska
authors: Bertrand
authors: B
authors: Goudeau
authors: Ewa
authors: E
authors: Walczak
authors: Patrick
authors: P
authors: Vicart
authors: Irena
authors: I
authors: Hausmanowa-Petrusewicz
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics*; D004252:DNA Mutational Analysis; D003893:Desmin / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D007381:Intermediate Filament Proteins / Q000378:metabolism; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000379:methods; D018908:Muscle Weakness / Q000235:genetics / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D009206:Myocardium / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009419:Nerve Tissue Proteins / Q000378:metabolism; D011392:Proline / Q000235:genetics*; D011494:Protein Kinases / Q000378:metabolism; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D038203:alpha-Crystallin B Chain
chemical_list: C059215:CRYAB protein, human; D003893:Desmin; D007381:Intermediate Filament Proteins; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger; D038203:alpha-Crystallin B Chain; D001120:Arginine; D011392:Proline; D011494:Protein Kinases