Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

Nature Genetics
C G BönnemannE P Hoffman

Abstract

The dystrophin associated proteins (DAPs) are good candidates for harboring primary mutations in the genetically heterogeneous autosomal recessive muscular dystrophies (ARMD). The transmembrane components of the DAPs can be separated into the dystroglycan and the sarcoglycan complexes. Here we report the isolation of cDNAs encoding the 43 kD sarcoglycan protein beta-sarcoglycan (A3b) and the localization of the human gene to chromosome 4q12. We describe a young girl with ARMD with truncating mutations on both alleles. Immunostaining of her muscle biopsy shows specific loss of the components of the sarcoglycan complex (beta-sarcoglycan, alpha-sarcoglycan (adhalin), and 35 kD sarcoglycan). Thus secondary destabilization of the sarcoglycan complex may be an important pathophysiological event in ARMD.

References

Oct 1, 1992·Journal of Biochemistry·M YoshidaE Ozawa
May 1, 1992·Neurology·E P HoffmanL P Rowland
Sep 20, 1991·Cell·J M Ervasti, K P Campbell
Nov 1, 1990·Journal of Biochemistry·M Yoshida, E Ozawa
Oct 5, 1990·Journal of Molecular Biology·S F AltschulD J Lipman
Aug 1, 1990·Current Opinion in Cell Biology·G von Heijne
Mar 16, 1989·Nature·K P Campbell, S D Kahl
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Aug 13, 1985·Biochemistry·A L TarentinoT H Plummer
Jun 1, 1994·Nature Genetics·G GyapayJ Weissenbach
Jul 1, 1995·Neuromuscular Disorders : NMD·K M Bushby, J S Beckmann
Oct 11, 1994·Proceedings of the National Academy of Sciences of the United States of America·E M McNallyL M Kunkel
Apr 1, 1993·Nature Genetics·A H Ahn, L M Kunkel
Aug 30, 1994·Proceedings of the National Academy of Sciences of the United States of America·J M TinsleyK E Davies
Sep 15, 1994·Biochemical and Biophysical Research Communications·Y MizunoS Hirai
May 10, 1994·Proceedings of the National Academy of Sciences of the United States of America·A H AhnL M Kunkel
Jul 1, 1993·Journal of Biochemistry·H YamamotoE Ozawa
Jan 1, 1995·Human Molecular Genetics·E OzawaS Noguchi

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Citations

Jan 13, 1999·Prenatal Diagnosis·P DinçerH Topaloğlu
Apr 16, 1999·Muscle & Nerve·P MelaciniC Angelini
Feb 17, 2001·Muscle & Nerve·R DraviamS C Watkins
Jul 12, 2002·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Heather J SpenceSteven J Winder
Feb 3, 2005·Indian Journal of Pediatrics·Seema KapoorAshish Gupta
Aug 19, 2004·Der Nervenarzt·J Finsterer
May 15, 2010·Current Neurology and Neuroscience Reports·Carolina Tesi Rocha, Eric P Hoffman
Apr 5, 2003·Journal of Molecular and Cellular Cardiology·Elizabeth McNallyAhlke Heydemann
Mar 10, 1997·Journal of the Neurological Sciences·M J SpencerM Zatz
Jun 29, 1999·Journal of the Neurological Sciences·E P Hoffman
Nov 24, 1999·Journal of the Neurological Sciences·N MinamiI Nonaka
Jan 9, 1998·Progress in Neurobiology·F Schmitz, D Drenckhahn
Oct 1, 1996·Current Opinion in Cell Biology·M D Henry, K P Campbell
Mar 4, 1998·Current Opinion in Cell Biology·J A Towbin
Jun 22, 2002·Current Opinion in Genetics & Development·Madeleine Durbeej, Kevin P Campbell
Jun 6, 2000·Neuromuscular Disorders : NMD·P DinçerH Topalolu
Feb 13, 2001·Neuromuscular Disorders : NMD·R PogueK M Bushby
Mar 21, 2001·Neuromuscular Disorders : NMD·L PolitanoG Nigro
May 23, 2001·Neuromuscular Disorders : NMD·R CaglianiG Scarlato
Aug 6, 2003·Neuromuscular Disorders : NMD·K J JonesK N North
Aug 19, 2003·Neuromuscular Disorders : NMD·Mayana ZatzMariz Vainzof
Dec 1, 1996·Neuromuscular Disorders : NMD·U M Wewer, E Engvall
Dec 1, 1996·Neuromuscular Disorders : NMD·D J Duggan, E P Hoffman
Dec 1, 1996·Neuromuscular Disorders : NMD·I MahjnehK Bushby
Dec 1, 1996·Neuromuscular Disorders : NMD·M JeanpierreJ C Kaplan
Jun 19, 1998·Neuromuscular Disorders : NMD·C G BönnemannL M Kunkel
Jul 17, 1999·Neuromuscular Disorders : NMD·E PegoraroE P Hoffman

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