title: Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.
abstract: Five Sardinian patients presented in their 5th or 6th decade with progressive limb girdle muscle weakness but their muscle biopsies showed vacuolar myopathy. The more or less abundant subsarcolemmal and intermyofibrillar vacuoles showed intense, partially α-amylase resistant, PAS-positive deposits consistent with polyglucosan. The recent description of late-onset polyglucosan myopathy has prompted us to find new genetic defects in the gene (GYG1) encoding glycogenin-1, the crucial primer enzyme of glycogen synthesis in muscle. We found a single homozygous intronic mutation harbored by five patients, who, except for two siblings, appear to be unrelated but all five live in central or south Sardinian villages.
authors.affiliation: Department of Neurology, Columbia University Medical Center, NewYork, NY, USA. Electronic address: sd12@cumc.columbia.edu.
authors.forename: H Orhan
authors.initials: HO
authors.lastname: Akman
authors.affiliation: Department of Neurology, Columbia University Medical Center, NewYork, NY, USA.
authors.forename: Yavuz
authors.initials: Y
authors.lastname: Aykit
authors.affiliation: Department of Neurology, Columbia University Medical Center, NewYork, NY, USA.
authors.forename: Ozge Ceren
authors.initials: OC
authors.lastname: Amuk
authors.affiliation: UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, Sorbonne Universités, 47 Boulevard de l'Hôpital, 75013 Paris, France; Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Unité de Morphologie Neuromusculaire, Paris, France.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Malfatti
authors.affiliation: UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, Sorbonne Universités, 47 Boulevard de l'Hôpital, 75013 Paris, France; Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Unité de Morphologie Neuromusculaire, Paris, France.
authors.forename: Norma B
authors.initials: NB
authors.lastname: Romero
authors.affiliation: ASL8, Centro Sclerosi Multipla, Cagliari, Italy.
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Maioli
authors.affiliation: ASL8, Centro Sclerosi Multipla, Cagliari, Italy.
authors.forename: Rachele
authors.initials: R
authors.lastname: Piras
authors.affiliation: Department of Neurology, Columbia University Medical Center, NewYork, NY, USA.
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
authors.affiliation: ASL8, Centro Sclerosi Multipla, Cagliari, Italy.
authors.forename: Gianni
authors.initials: G
authors.lastname: Marrosu
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D005936:Glucans / Q000235:genetics*; D005964:Glucosyltransferases / Q000235:genetics*; D006008:Glycogen Storage Disease / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*
chemical_list: D005936:Glucans; D006023:Glycoproteins; C051887:glycogenin; C083094:polyglucosan; D005964:Glucosyltransferases
keywords: GYG1; Glycogenin deficiency; Glycogenosis; Polyglucosan myopathy