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Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy

Lookup NU author(s): Dr Jana Haberlova, Dr Katarina Kranz, Dr Rita Barresi, Emerita Professor Katherine Bushby, Professor Volker StraubORCiD, Professor Hanns Lochmuller


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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 alpha-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. (C) 2014 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): Haberlova J, Mitrovic Z, Zarkovic K, Lovric D, Baric V, Berlengi L, Bilic K, Fumic K, Kranz K, Huebner A, von der Hagen M, Barresi R, Bushby K, Straub V, Baric I, Lochmuller H

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2014

Volume: 24

Issue: 11

Pages: 990-992

Print publication date: 01/11/2014

Online publication date: 03/07/2014

Acceptance date: 25/06/2014

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier


DOI: 10.1016/j.nmd.2014.06.440


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Funder referenceFunder name
MR/K000608/1Medical Research Council