Literature DB >> 15684453

Beta-sarcoglycanopathy.

Seema Kapoor1, Medha Tatke, Sandeep Aggarwal, Ashish Gupta.   

Abstract

Sarcoglycanopathies are relatively rare progressive muscular dystrophies with autosomal recessive inheritance; which belong to the group of limb girdle muscular dystrophies. The phenotype resembles dystrophinopathies due to proximal muscle weakness and calf hypertrophy. Reports from the Indian subcontinent are scarce. The authors report a case of primary beta-sarcoglycanopathy and describe literature pertaining to this rare entity.

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Year:  2005        PMID： 15684453     DOI： 10.1007/bf02760585

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  11 in total

1.  Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria.

Authors:  R Cagliani; G P Comi; L Tancredi; M Sironi; F Fortunato; R Giorda; A Bardoni; M Moggio; A Prelle; N Bresolin; G Scarlato
Journal:  Neuromuscul Disord       Date:  2001-05       Impact factor: 4.296

2.  Sarcoglycanopathies: a report of 25 cases.

Authors:  S V Khadilkar; R K Singh; S M Katrak
Journal:  Neurol India       Date:  2002-03       Impact factor: 2.117

3.  Gamma-sarcoglycanopathy.

Authors:  Sheffali Gulati; Surbhi Leekha; M C Sharma; Veena Kalra
Journal:  Indian Pediatr       Date:  2003-11       Impact factor: 1.411

Review 4.  Dystrophin-associated proteins in muscular dystrophy.

Authors:  E Ozawa; M Yoshida; A Suzuki; Y Mizuno; Y Hagiwara; S Noguchi
Journal:  Hum Mol Genet       Date:  1995       Impact factor: 6.150

5.  Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.

Authors:  L E Lim; F Duclos; O Broux; N Bourg; Y Sunada; V Allamand; J Meyer; I Richard; C Moomaw; C Slaughter
Journal:  Nat Genet       Date:  1995-11       Impact factor: 38.330

Review 6.  Molecular bases of autosomal recessive limb-girdle muscular dystrophies.

Authors:  V Nigro
Journal:  Acta Myol       Date:  2003-09

7.  LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.

Authors:  C G Bönnemann; J Wong; C Ben Hamida; M B Hamida; F Hentati; L M Kunkel
Journal:  Neuromuscul Disord       Date:  1998-05       Impact factor: 4.296

8.  Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy.

Authors:  Nicolas Sylvius; Laetitia Duboscq-Bidot; Christiane Bouchier; Philippe Charron; Abdelaziz Benaiche; Pascale Sébillon; Michel Komajda; Eric Villard
Journal:  Am J Med Genet A       Date:  2003-07-01       Impact factor: 2.802

9.  Mutations in the sarcoglycan genes in patients with myopathy.

Authors:  D J Duggan; J R Gorospe; M Fanin; E P Hoffman; C Angelini
Journal:  N Engl J Med       Date:  1997-02-27       Impact factor: 91.245

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

Authors:  C G Bönnemann; R Modi; S Noguchi; Y Mizuno; M Yoshida; E Gussoni; E M McNally; D J Duggan; C Angelini; E P Hoffman
Journal:  Nat Genet       Date:  1995-11       Impact factor: 38.330
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  3 in total

Review 1.  Limb-girdle Muscular Dystrophies in India: A Review.

Authors:  Satish V Khadilkar; Hinaben Dayalal Faldu; Sarika Bapuso Patil; Rakesh Singh
Journal:  Ann Indian Acad Neurol       Date:  2017 Apr-Jun       Impact factor: 1.383

2.  Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.

Authors:  Ivana F Audhya; Antoinette Cheung; Shelagh M Szabo; Emma Flint; Conrad C Weihl; Katherine L Gooch
Journal:  J Neuromuscul Dis       Date:  2022

3.  The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.

Authors:  Liang Wang; Victor Wei Zhang; Shaoyuan Li; Huan Li; Yiming Sun; Jing Li; Yuling Zhu; Ruojie He; Jinfu Lin; Cheng Zhang
Journal:  Orphanet J Rare Dis       Date:  2018-08-14       Impact factor: 4.123
  3 in total

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