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Pregled bibliografske jedinice broj: 742021

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

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 (međunarodna recenzija, članak, znanstveni)

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

Autori
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.

Izvornik
Neuromuscular disorders (0960-8966) 24 (2014), 11; 990-992

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
psycho-organic symptoms; POMT1 mutations; limb girdle muscular dystrophy; Walker-Warburg-syndrome

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Projekti:
108-0000000-0028 - Oksidacijski stres i tumori središnjeg živčanog sustava (Žarković, Kamelija, MZOS ) ( CroRIS)
108-1081870-1885 - Nasljedne metaboličke i ostale monogenske bolesti djece (Barić, Ivo, MZOS ) ( CroRIS)

Ustanove:
Medicinski fakultet, Zagreb,
Klinika za psihijatriju Vrapče,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Karlo Bilić (autor)

Avatar Url Ksenija Fumić (autor)

Avatar Url Ivo Barić (autor)

Avatar Url Kamelija Žarković (autor)

Avatar Url Lada Berlengi (autor)

Poveznice na cjeloviti tekst rada:

doi www.ncbi.nlm.nih.gov www.sciencedirect.com dx.doi.org

Citiraj ovu publikaciju:

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 (međunarodna recenzija, članak, znanstveni)
Haberlova, J., Mitrović, Z., Žarković, K., Lovrić, D., Barić, V., Berlengi, L., Bilić, K., Fumić, K., Kranz, K. & Huebner, A. (2014) Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy : case report. Neuromuscular disorders, 24 (11), 990-992 doi:10.1016/j.nmd.2014.06.440.
@article{article, author = {Haberlova, J. and Mitrovi\'{c}, Z. and \v{Z}arkovi\'{c}, Kamelija and Lovri\'{c}, D. and Bari\'{c}, V. and Berlengi, Lada and Bili\'{c}, Karlo and Fumi\'{c}, Ksenija and Kranz, K. and Huebner, A. and von der Hagen, M. and Barresi, R. and Bushby, K and Straub, V. and Bari\'{c}, Ivo and Lochm\"{u}ller, H.}, year = {2014}, pages = {990-992}, DOI = {10.1016/j.nmd.2014.06.440}, keywords = {psycho-organic symptoms, POMT1 mutations, limb girdle muscular dystrophy, Walker-Warburg-syndrome}, journal = {Neuromuscular disorders}, doi = {10.1016/j.nmd.2014.06.440}, volume = {24}, number = {11}, issn = {0960-8966}, title = {Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy : case report}, keyword = {psycho-organic symptoms, POMT1 mutations, limb girdle muscular dystrophy, Walker-Warburg-syndrome} }
@article{article, author = {Haberlova, J. and Mitrovi\'{c}, Z. and \v{Z}arkovi\'{c}, Kamelija and Lovri\'{c}, D. and Bari\'{c}, V. and Berlengi, Lada and Bili\'{c}, Karlo and Fumi\'{c}, Ksenija and Kranz, K. and Huebner, A. and von der Hagen, M. and Barresi, R. and Bushby, K and Straub, V. and Bari\'{c}, Ivo and Lochm\"{u}ller, H.}, year = {2014}, pages = {990-992}, DOI = {10.1016/j.nmd.2014.06.440}, keywords = {psycho-organic symptoms, POMT1 mutations, limb girdle muscular dystrophy, Walker-Warburg-syndrome}, journal = {Neuromuscular disorders}, doi = {10.1016/j.nmd.2014.06.440}, volume = {24}, number = {11}, issn = {0960-8966}, title = {Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy : case report}, keyword = {psycho-organic symptoms, POMT1 mutations, limb girdle muscular dystrophy, Walker-Warburg-syndrome} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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