title: Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy.
abstract: We report two siblings of Croatian consanguineous healthy parents with a novel homozygous missense mutation in the POMT1 gene, presenting with intellectual disability and psychotic, in particular hallucinatory symptoms and abnormal brain MRIs, preceding classical symptoms of limb-girdle muscular dystrophy by several years. Weakness became apparent in early adulthood and both siblings remained ambulant into the 3rd and 4th decade of life. The muscle biopsy showed reduced α-dystroglycan compatible with the POMT1 defect. This case report extends the phenotypic spectrum of POMT1 associated muscular dystrophies to the adult onset limb girdle muscular dystrophies with psycho-organic deficits.
authors.affiliation: MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, UK.
authors.forename: J
authors.initials: J
authors.lastname: Haberlova
authors.affiliation: National Center for Neuromuscular Diseases and Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia.
authors.forename: Z
authors.initials: Z
authors.lastname: Mitrović
authors.affiliation: Department of Pathology, University Hospital Center Zagreb, Croatia; University of Zagreb, School of Medicine, Zagreb, Croatia.
authors.forename: K
authors.initials: K
authors.lastname: Zarković
authors.affiliation: Polyclinic Sunce, Zagreb, Croatia.
authors.forename: D
authors.initials: D
authors.lastname: Lovrić
authors.affiliation: Department for Integral Psychiatry, Psychiatric University Hospital Vrapče, Zagreb, Croatia.
authors.forename: V
authors.initials: V
authors.lastname: Barić
authors.affiliation: Department of Neurology, University Hospital Center Zagreb, Croatia.
authors.forename: L
authors.initials: L
authors.lastname: Berlengi
authors.affiliation: Clinical Institute for Laboratory Diagnostics, University Hospital Center Zagreb, Croatia.
authors.forename: K
authors.initials: K
authors.lastname: Bilić
authors.affiliation: Clinical Institute for Laboratory Diagnostics, University Hospital Center Zagreb, Croatia.
authors.forename: K
authors.initials: K
authors.lastname: Fumić
authors.affiliation: MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, UK.
authors.forename: K
authors.initials: K
authors.lastname: Kranz
authors.affiliation: Klinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus Technische Universität Dresden, Dresden, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Huebner
authors.affiliation: Department of Neuropediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
authors.forename: M
authors.initials: M
authors.lastname: von der Hagen
authors.affiliation: MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, UK.
authors.forename: R
authors.initials: R
authors.lastname: Barresi
authors.affiliation: MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, UK.
authors.forename: K
authors.initials: K
authors.lastname: Bushby
authors.affiliation: MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, UK.
authors.forename: V
authors.initials: V
authors.lastname: Straub
authors.affiliation: Department of Pediatrics, University Hospital Center Zagreb, Croatia; University of Zagreb, School of Medicine, Zagreb, Croatia.
authors.forename: I
authors.initials: I
authors.lastname: Barić
authors.affiliation: MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, UK. Electronic address: hanns.lochmuller@ncl.ac.uk.
authors.forename: H
authors.initials: H
authors.lastname: Lochmüller
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D003072:Cognition Disorders / Q000209:etiology* / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008364:Mannosyltransferases / Q000235:genetics*; D001523:Mental Disorders / Q000209:etiology* / Q000235:genetics; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D035781:Siblings
chemical_list: D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase
keywords: Intellectual disability; Muscular dystrophy; POMT1 gene; Psychotic syndrome