Open Access

Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene


Cite

Dubowitz V, Sewry CA, Oldfors A, Eds. Muscular dystrophies and allied disorders II: Limbgirdle muscular dystrophies. Muscle Biopsy: A Practical Approach. Philadelphia, PA: Saunders/ Elsevier. 2013: 276-302.DubowitzVSewryCAOldforsAEds. Muscular dystrophies and allied disorders II: Limbgirdle muscular dystrophiesMuscle Biopsy: A Practical ApproachPhiladelphia, PASaunders/Elsevier201327630210.1016/B978-0-7020-4340-6.00011-2Search in Google Scholar

Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, et al. Beta-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet. 1995; 11(3): 257-265.LimLEDuclosFBrouxOBourgNSunadaYAllamandVet alBeta-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12Nat Genet199511325726510.1038/ng1195-257Search in Google Scholar

Sandonа D, Betto R. Sarcoglycanopathies: Molecular pathogenesis and therapeutic prospects. Expert Rev Mol Med. 2009; 11: e28. 10.1017/S1462399409001203.SandonаDBettoRSarcoglycanopathies: Molecular pathogenesis and therapeutic prospectsExpert Rev Mol Med200911e2810.1017/S146239940900 120310.1017/S1462399409001203Search in Google Scholar

Bonnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, et al. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet. 1995; 11(3): 266-273. Erratum: Nat Genet. 1996; 12(1): 110.BonnemannCGModiRNoguchiSMizunoYYoshidaMGussoniEet alBeta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complexNat Genet1995113266273ErratumNat Genet199612111010.1038/ng1195-266Search in Google Scholar

Araishi K, Sasaoka T, Imamura M, Noguchi S, Hama H, Wakabayashi E, et al. Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice. Hum Molec Genet. 1999; 8(9): 1589-1598.AraishiKSasaokaTImamuraMNoguchiSHamaHWakabayashiEet alLoss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient miceHum Molec Genet1999891589159810.1093/hmg/8.9.1589Search in Google Scholar

Barresi R, Di Blasi C, Negri T, Brugnori R, Vitali A, Felisari G, et al. Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. J Med Genet. 2000; 37(2): 102-107.BarresiRDi BlasiCNegriTBrugnoriRVitaliAFelisariGet alDisruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutationsJ Med Genet200037210210710.1136/jmg.37.2.102Search in Google Scholar

Diniz G, Tosun Yildirim H, Akinci G, Hazan F, Ozturk A, Yararbas K, et al. Sarcolemmal alpha and gam-ma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene. Pediatr Neurol. 2014; 50(6): 640-647.DinizGTosun YildirimHAkinciGHazanFOzturkAYararbasKet alSarcolemmal alpha and gam-ma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan genePediatr Neurol201450664064710.1016/j.pediatrneurol.2013.12.024Search in Google Scholar

Diniz G, Tosun Yildirim H, Gokben S, Serdaroglu G, Hazan F, Yararbas K, et al. Concomitant alpha- and gamma-sarcoglycan deficiencies in a Turkish boy with a novel deletion in the alpha-sarcoglycan gene. Case Rep Genet. 2014; 2014: 248561. 10.1155/2014/248561.DinizGTosun YildirimHGokbenSSerdarogluGHazanFYararbasKet alConcomitant alpha- and gamma-sarcoglycan deficiencies in a Turkish boy with a novel deletion in the alpha-sarcoglycan geneCase Rep Genet2014201424856110.1155/2014/24856110.1155/2014/248561Search in Google Scholar

Dincer P, Akcoren Z, Demir E, Richard I, Sancak O, Kale G, et al. A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families. J Med Genet. 2000; 37(5): 361-367.DincerPAkcorenZDemirERichardISancakOKaleGet alA cross section of autosomal recessive limb-girdle muscular dystrophies in 38 familiesJ Med Genet200037536136710.1136/jmg.37.5.361Search in Google Scholar

Pogue R, Anderson LV, Pyle A, Sewry C, Pollitt C, Johnson MA, et al. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord. 2001; 11(1): 80-87.PogueRAndersonLVPyleASewryCPollittCJohnsonMAet alStrategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophiesNeuromuscul Disord2001111808710.1016/S0960-8966(00)00154-1Search in Google Scholar

Moreira ES, Vainzof M, Suzuki OT, Pavanello RC, Zatz M, Passos-Bueno MR. Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. J Med Genet. 2003; 40(2): E12. 10.1136/jmg.40.2.e12.MoreiraESVainzofMSuzukiOTPavanelloRCZatzMPassos-BuenoMRGenotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutationsJ Med Genet2003402E1210.1136/jmg.40.2.e1210.1136/jmg.40.2.e12Search in Google Scholar

Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen JT, Barresi R, et al. Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype? Neuromuscul Disord. 2008; 18(12): 934-941.KlingeLDekomienGAboumousaACharltonREpplenJTBarresiRet alSarcoglycanopathies: Can muscle immunoanalysis predict the genotype?Neuromuscul Disord2008181293494110.1016/j.nmd.2008.08.003Search in Google Scholar

Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, et al. Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet. 2008; 16(7): 793-803.TrabelsiMKavianNDaoudFCommereVDeburgraveNBeugnetCet alRevised spectrum of mutations in sarcoglycanopathiesEur J Hum Genet200816779380310.1038/ejhg.2008.9Search in Google Scholar

eISSN:
1311-0160
Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Basic Medical Science, other