Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy : case report (CROSBI ID 214172)
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Haberlova, J. ; Mitrović, Z. ; Žarković, Kamelija ; Lovrić, D. ; Barić, V. ; Berlengi, Lada ; Bilić, Karlo ; Fumić, Ksenija ; Kranz, K. ; Huebner, A. ; von der Hagen, M. ; Barresi, R. ; Bushby, K ; Straub, V. ; Barić, Ivo ; Lochmüller, H.
engleski
Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy : case report
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.
psycho-organic symptoms; POMT1 mutations; limb girdle muscular dystrophy; Walker-Warburg-syndrome
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Kliničke medicinske znanosti