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 mus...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2014-11, Vol.24 (11), p.990-992
Hauptverfasser:	Haberlova, J, Mitrović, Z, Žarković, K, Lovrić, D, Barić, V, Berlengi, L, Bilić, K, Fumić, K, Kranz, K, Huebner, A, von der Hagen, M, Barresi, R, Bushby, K, Straub, V, Barić, I, Lochmüller, H
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Brain - pathology Cognition Disorders - etiology Cognition Disorders - genetics Consanguinity DNA Mutational Analysis Female Humans Intellectual disability Magnetic Resonance Imaging Mannosyltransferases - genetics Mental Disorders - etiology Mental Disorders - genetics Muscular Dystrophies, Limb-Girdle - complications Muscular Dystrophies, Limb-Girdle - genetics Muscular dystrophy Mutation - genetics Neurology POMT1 gene Psychotic syndrome Siblings
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