Acta Physiologica Hungarica
Volume/Issue:
Volume 95: Issue 4
Muscular dystrophies: diagnostic approaches in Hungary
Authors:
H. Pikó National Institute of Environmental Health Department of Molecular Genetics and Diagnostics Gyáli út 2–6 H-1096 Budapest Hungary

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V. Vancsó National Institute of Environmental Health Department of Molecular Genetics and Diagnostics Gyáli út 2–6 H-1096 Budapest Hungary

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B. Nagy Semmelweis University Laboratory of Genetics, Clinic of Obstetrics and Gynaecology Budapest Hungary

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J. Balog National Institute of Environmental Health Department of Molecular Genetics and Diagnostics Gyáli út 2–6 H-1096 Budapest Hungary

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M. Nagymihály National Institute of Environmental Health Department of Molecular Genetics and Diagnostics Gyáli út 2–6 H-1096 Budapest Hungary

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A. Herczegfalvi Bethesda Children’s Hospital Department of Neurology Budapest Hungary

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L. Tímár National Institute of Child Health Department of Genetic Counselling Budapest Hungary

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Z. Bán Semmelweis University Laboratory of Genetics, Clinic of Obstetrics and Gynaecology Budapest Hungary

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V. Karcagi National Institute of Environmental Health Department of Molecular Genetics and Diagnostics Gyáli út 2–6 H-1096 Budapest Hungary

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Pages:
405–418
Online Publication Date:
24 Oct 2008
Publication Date:
01 Dec 2008
Article Category:
Journal Article
DOI:
https://doi.org/10.1556/aphysiol.95.2008.4.7
Keywords:
Duchenne/Becker muscular dystrophy; facioscapulohumeral muscular dystrophy; MLPA
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Muscular dystrophies are a genetically heterogeneous group of degenerative muscle disorders. This article focuses on two severe forms of muscular dystrophies and provides genetic data for a large cohort of Hungarian patients diagnosed within the last few years by the authors.The Duchenne/Becker muscular dystrophy (DMD/BMD) is caused by mutations in the dystrophin gene, which is located on chromosome Xp21. The genetic analysis of dystrophin is usually performed by multiplex polymerase chain reaction (PCR), which detects approximately 95% of all deletions but does not distinguish between one and two copies of the exons investigated. The present work, therefore, concentrates on the improvement of the diagnostic panel for the analysis of DMD/BMD in Hungary. Radioactively labelled cDNA probes, encompassing the whole dystrophin gene detect all the deletions and the analysis is quantitative. In addition, the new multiple ligationdependent probe amplification (MLPA) technique was recently introduced that enabled more reliable and faster quantitative detection of the entire dystrophin gene. The genomic basis of facioscapulohumeral muscular dystrophy (FSHD) is associated with contraction of the D4Z4 repeat region in the subtelomere of chromosome 4q. In case of FSHD, molecular genetic criteria still have to be improved because of the complexity of the disorder.

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Cover Acta Physiologica Hungarica
Acta Physiologica Hungarica
Print ISSN:
0231-424X
Online ISSN:
1588-2683

Senior editors

Editor(s)-in-Chief: Rosivall, László

Honorary Editor(s)-in-Chief): Monos, Emil

Managing Editor(s): Bartha, Jenő; Berhidi, Anna

Co-editor(s): Koller, Ákos; Lénárd, László; Szénási, Gábor

Assistant Editor(s): G. Dörnyei (Budapest), Zs. Miklós (Budapest), Gy. Nádasy (Budapest)

Hungarian Editorial Board

    1. Benedek, György (Szeged)
    1. Benyó, Zoltán (Budapest)
    1. Boros, Mihály (Szeged)
    1. Chernoch, László (Debrecen)
    1. Détári, László (Budapest)
    1. Hamar, János (Budapest)
    1. Hantos, Zoltán (Szeged)
    1. Hunyady, László (Budapest)
    1. Imre, Sándor (Debrecen)
    1. Jancsó, Gábor (Szeged)
    1. Karádi, Zoltán (Pécs)
    1. Kovács, László (Debrecen)
    1. Palkovits, Miklós (Budapest)
    1. Papp, Gyula (Szeged)
    1. Pavlik, Gábor (Budapest)
    1. Spät, András (Budapest)
    1. Szabó, Gyula (Szeged)
    1. Szelényi, Zoltán (Pécs)
    1. Szolcsányi, János (Pécs)
    1. Szollár, Lajos (Budapest)
    1. Szücs, Géza (Debrecen)
    1. Telegdy, Gyula (Szeged)
    1. Toldi, József (Szeged)
    1. Tósaki, Árpád (Debrecen)

International Editorial Board

    1. R. Bauer (Jena)
    1. W. Benjelloun (Rabat)
    1. A. W. Cowley Jr. (Milwaukee)
    1. D. Djuric (Belgrade)
    1. C. Fry (London)
    1. S. Greenwald (London)
    1. O. Hänninen (Kuopio)
    1. H. G. Hinghofer-Szalkay (Graz)
    1. Th. Kenner (Graz)
    1. Gy. Kunos (Richmond)
    1. M. Mahmoudian (Tehran)
    1. T. Mano (Seki, Gifu)
    1. G. Navar (New Orleans)
    1. H. Nishino (Nagoya)
    1. O. Petersen (Liverpool)
    1. U. Pohl (Münich)
    1. R. S. Reneman (Maastricht)
    1. A. Romanovsky (Phoenix)
    1. G. M. Rubanyi (Richmond)
    1. T. Sakata (Oita)
    1. A. Siddiqui (Karachi)
    1. Cs. Szabo (Beverly)
    1. E. Vicaut (Paris)
    1. N. Westerhof (Amsterdam)
    1. L. F. Zhang (Xi'an)

Editorial Office:
Akadémiai Kiadó Zrt.
Prielle Kornélia u. 21–35, H-1117 Budapest, Hungary

Editorial Correspondence:
Acta Physiologica Hungarica
Semmelweis University, Faculty of Medicine Institute of Pathophysiology
Nagyvárad tér 4, H-1089 Budapest, Hungary
Phone/Fax: +36-1-2100-100
E-mail: aph@semmelweis-univ.hu

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Acta Physiologica Hungarica
Language English
Size  
Year of
Foundation		 1950
Publication
Programme		 changed title
Volumes
per Year		  
Issues
per Year		  
Founder Magyar Tudományos Akadémia
Founder's
Address		 H-1051 Budapest, Hungary, Széchenyi István tér 9.
Publisher Akadémiai Kiadó
Publisher's
Address		 H-1117 Budapest, Hungary 1516 Budapest, PO Box 245.
Responsible
Publisher		 Chief Executive Officer, Akadémiai Kiadó
ISSN 0231-424X (Print)
ISSN 1588-2683 (Online)

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