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izvor podataka: crosbi

Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy : case report (CROSBI ID 214172)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

Haberlova, J. ; Mitrović, Z. ; Žarković, Kamelija ; Lovrić, D. ; Barić, V. ; Berlengi, Lada ; Bilić, Karlo ; Fumić, Ksenija ; Kranz, K. ; Huebner, A. et al. Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy : case report // Neuromuscular disorders, 24 (2014), 11; 990-992. doi: 10.1016/j.nmd.2014.06.440

Podaci o odgovornosti

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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Podaci o izdanju

24 (11)

2014.

990-992

objavljeno

0960-8966

10.1016/j.nmd.2014.06.440

Povezanost rada

Kliničke medicinske znanosti

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