title: Proximal myotonic myopathy and proximal myotonic dystrophy: two different entities? The phenotypic variability of proximal myotonic syndromes.
abstract: Multisystemic myotonic myopathies are characterised by a variable pattern of symptoms and signs and a variable degree of disease severity. Proximal myotonic dystrophy has been described as an entity distinct from proximal myotonic myopathy because of severe proximal muscle weakness and dystrophic changes on magnetic reasonace imaging and on muscle histopathology. We describe two siblings, one of them presenting with a proximal myotonic myopathy phenotype, the other with a proximal myotonic dystrophy-like phenotype. The variability of disease expression in these two siblings suggests that a proximal myotonic dystrophy-like variant may occur in proximal myotonic myopathy.
authors.affiliation: Department of Neurology, University of Würzburg, Josef-Schneider-Strasse 1197080, Würzburg, Germany. chris.schneider@mail.uni-wuerzburg.de
authors.forename: C
authors.initials: C
authors.lastname: Schneider
authors.forename: C
authors.initials: C
authors.lastname: Wessig
authors.forename: C R
authors.initials: CR
authors.lastname: Müller
authors.forename: D
authors.initials: D
authors.lastname: Brechtelsbauer
authors.forename: T
authors.initials: T
authors.lastname: Grimm
mesh_terms: D001706:Biopsy; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D020967:Myotonic Disorders / Q000145:classification* / Q000235:genetics / Q000473:pathology*; D009223:Myotonic Dystrophy / Q000145:classification* / Q000235:genetics / Q000473:pathology*; D009679:Nuclear Family; D010641:Phenotype