Literature DB >> 18421900

Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina.

S Avila De Salman1, A L Taratuto, G Dekomien, R Carrero-Valenzuela.   

Abstract

Immunohistochemical and DNA results are described in a patient with sarcoglycanopathy. Immunostaining was comparatively normal for alpha-, attenuated for beta- and delta-, and markedly attenuated for gamma-sarcoglycan, thus sarcoglycanopathy was diagnosed, presumably a gamma-sarcoglycanopathy. Unexpectedly, two alpha-SGP-related pathogenic mutations were identified in compound heterozygosity in the SGCA gene: c.229C > T (p.Arg77Cys) in exon 3 and c.850C > T (p.Arg284Cys) in exon 7. These are discussed together with six additional changes detected in SGCB, SGCG and SGCD.

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Year:  2007        PMID： 18421900      PMCID： PMC2949580     

Source DB:  PubMed          Journal:  Acta Myol        ISSN： 1128-2460


  10 in total

1.  Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.

Authors:  E S Moreira; M Vainzof; O T Suzuki; R C M Pavanello; M Zatz; M R Passos-Bueno
Journal:  J Med Genet       Date:  2003-02       Impact factor: 6.318

Review 2.  Molecular and cell biology of the sarcoglycan complex.

Authors:  Eijiro Ozawa; Yuji Mizuno; Yasuko Hagiwara; Toshikuni Sasaoka; Mikiharu Yoshida
Journal:  Muscle Nerve       Date:  2005-11       Impact factor: 3.217

3.  Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

Authors:  A Carrié; F Piccolo; F Leturcq; C de Toma; K Azibi; C Beldjord; J M Vallat; L Merlini; T Voit; C Sewry; J A Urtizberea; N Romero; F M Tomé; M Fardeau; Y Sunada; K P Campbell; J C Kaplan; M Jeanpierre
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

Review 4.  [Limb-girdle muscular dystrophy; update].

Authors:  Yoshihide Sunada
Journal:  Rinsho Shinkeigaku       Date:  2004-11

5.  Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family.

Authors:  M Vainzof; E S Moreira; M Canovas; L V Anderson; R C Pavanello; M R Passos-Bueno; M Zatz
Journal:  Muscle Nerve       Date:  2000-06       Impact factor: 3.217

6.  Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex.

Authors:  D J Duggan; E P Hoffman
Journal:  Neuromuscul Disord       Date:  1996-12       Impact factor: 4.296

Review 7.  From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy.

Authors:  E Ozawa; S Noguchi; Y Mizuno; Y Hagiwara; M Yoshida
Journal:  Muscle Nerve       Date:  1998-04       Impact factor: 3.217

8.  Different manners of sarcoglycan expression in genetically proven alpha-sarcoglycan deficiency and gamma-sarcoglycan deficiency.

Authors:  I Higuchi; H Kawai; Y Umaki; M Kawajiri; K Adachi; H Fukunaga; M Nakagawa; K Arimura; M Osame
Journal:  Acta Neuropathol       Date:  1998-08       Impact factor: 17.088

9.  Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies.

Authors:  R Pogue; L V Anderson; A Pyle; C Sewry; C Pollitt; M A Johnson; K Davison; J A Moss; E Mercuri; F Muntoni; K M Bushby
Journal:  Neuromuscul Disord       Date:  2001-01       Impact factor: 4.296

10.  Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Authors:  Philip L Beales; Jose L Badano; Alison J Ross; Stephen J Ansley; Bethan E Hoskins; Brigitta Kirsten; Charles A Mein; Philippe Froguel; Peter J Scambler; Richard Alan Lewis; James R Lupski; Nicholas Katsanis
Journal:  Am J Hum Genet       Date:  2003-04-03       Impact factor: 11.025
  10 in total
  1 in total

1.  Concomitant alpha- and gamma-sarcoglycan deficiencies in a Turkish boy with a novel deletion in the alpha-sarcoglycan gene.

Authors:  Gulden Diniz; Hulya Tosun Yildirim; Sarenur Gokben; Gul Serdaroglu; Filiz Hazan; Kanay Yararbas; Ajlan Tukun
Journal:  Case Rep Genet       Date:  2014-06-22
  1 in total

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