PMID: 9429136Jan 16, 1998Paper

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations

Journal of Medical Genetics
M FaninC Angelini

Abstract

The autosomal recessive limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous muscle diseases characterised by progressive proximal limb muscle weakness. Six different loci have been mapped and pathogenetic mutations in the genes encoding the sarcoglycan complex components (alpha-, beta-, gamma-, and delta-sarcoglycan) have been documented. LGMD patients affected with primary "sarcoglycanopathies" are classified as LGMD2D, 2E, 2C, and 2F, respectively. A geographical area in north east Italy (2,319,147 inhabitants) was selected for a genetic epidemiological study on primary sarcoglycanopathies. Within the period 1982 to 1996, all patients living in this region and diagnosed with muscular dystrophy were seen at our centre. Immunohistochemical and immunoblot screening for alpha-sarcoglycan protein deficiency was performed on all muscle biopsies from patients with a progressive muscular dystrophy of unknown aetiology and normal dystrophin. Sarcoglycan mutation analyses were conducted on all patient muscle biopsies shown to have complete or partial absence of alpha-sarcoglycan immunostaining or a decreased quantity of alpha-sarcoglycan protein on immunoblotting. Two hundred and four patient muscle biopsi...Continue Reading

References

Jan 1, 1991·Neuromuscular Disorders : NMD·A E Emery
Jan 1, 1974·Social Biology·G A DanieliC Angelini
Oct 11, 1994·Proceedings of the National Academy of Sciences of the United States of America·E M McNallyL M Kunkel
Mar 1, 1994·Human Molecular Genetics·R BashirK M Bushby
Jan 1, 1995·Human Molecular Genetics·E OzawaS Noguchi
Nov 1, 1996·Human Molecular Genetics·E M McNallyE P Hoffman
Feb 27, 1997·The New England Journal of Medicine·D J DugganC Angelini

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Citations

Aug 19, 2004·Der Nervenarzt·J Finsterer
Jun 29, 1999·Journal of the Neurological Sciences·E P Hoffman
Nov 24, 1999·Journal of the Neurological Sciences·N MinamiI Nonaka
Jul 19, 2003·Neuromuscular Disorders : NMD·M FaninC Angelini
Aug 19, 2003·Neuromuscular Disorders : NMD·Mayana ZatzMariz Vainzof
Mar 14, 2000·Neuromuscular Disorders : NMD·K J NowakN G Laing
Jun 29, 2001·Journal of Clinical Pathology·I N SheriffsV V Smith
Aug 7, 2004·Neuroepidemiology·M ZorteaC P Trevisan
Jul 30, 2011·Skeletal Muscle·Alison M Blain, Volker W Straub
Jan 28, 2014·Acta neurologica Belgica·Abdallah FayssoilDavid Orlikowski
Jan 21, 2016·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Jean K MahNathalie Jette
Mar 13, 2012·Revue neurologique·A FayssoilD Annane
Jul 16, 2010·Neuromuscular Disorders : NMD·M C E HermansC G Faber
Jul 9, 2017·Journal of Neurogenetics·Afagh AlaviFatemeh Jazayeri
Nov 14, 2017·Muscle & Nerve·Nicholas J SilvestriElizabeth M Raynor
Aug 4, 1999·Brain : a Journal of Neurology·K M Bushby
Feb 19, 2000·Microscopy Research and Technique·A A HackE M McNally
May 4, 2000·Genetic Testing·F Gilbert
Jun 17, 2006·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Telma L F GouveiaMariz Vainzof
Dec 22, 2007·The Journal of Biological Chemistry·Delia J Hernández-DeviezRobert G Parton
Oct 6, 2006·Journal of Neuropathology and Experimental Neurology·Steven A MooreJerry R Mendell
Jul 22, 2015·Journal of Neuromuscular Diseases·Alexander Peter Murphy, Volker Straub
May 21, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Wei LiuMonkol Lek
Feb 16, 2019·Orphanet Journal of Rare Diseases·Zhiying XieYun Yuan
Jun 11, 2021·The Protein Journal·Dimitra G GeorganopoulouChih-Kao Hu
Dec 22, 2004·The Journal of Comparative Neurology·Pokman ChanStuart C Sealfon
Jul 26, 2002·Seminars in Pediatric Neurology·Carsten G Bönnemann, Richard S Finkel

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