title: A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).
abstract: Here we describe a patient with limb girdle muscular dystrophy 1A (LGMD1A) due to a novel myotilin gene (MYOT) mutation with late onset, rapid progression, loss of ambulation and respiratory failure. The onset of weakness in proximal muscles and muscle MRI findings are clearly different from the pattern identified in myofibrillar myopathies (MFM) related to MYOT mutations. Moreover, there was very limited evidence of myofibrillar pathology in several muscle biopsies obtained during the disease course. We conclude, that MYOT mutations need to be considered as a rare cause of adult-onset, dominant LGMD without clear-cut MFM pathology.
authors.affiliation: Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany. reilich@lrz.uni-muenchen.de
authors.forename: Peter
authors.initials: P
authors.lastname: Reilich
authors.forename: Sabine
authors.initials: S
authors.lastname: Krause
authors.forename: Nicolai
authors.initials: N
authors.lastname: Schramm
authors.forename: Ursula
authors.initials: U
authors.lastname: Klutzny
authors.forename: Stefanie
authors.initials: S
authors.lastname: Bulst
authors.forename: Barbara
authors.initials: B
authors.lastname: Zehetmayer
authors.forename: Peter
authors.initials: P
authors.lastname: Schneiderat
authors.forename: Maggie C
authors.initials: MC
authors.lastname: Walter
authors.forename: Benedikt
authors.initials: B
authors.lastname: Schoser
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
mesh_terms: D000328:Adult; D064211:Connectin; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008840:Microfilament Proteins; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D020125:Mutation, Missense; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D064211:Connectin; D003598:Cytoskeletal Proteins; C577290:MYOT protein, human; D008840:Microfilament Proteins; D009124:Muscle Proteins