Literature DB >> 7668303

Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C)

K Ben Othmane, M C Speer, J Stauffer, S Blel, L Middleton, C Ben Hamida, A Etribi, D Loeb, F Hentati, A D Roses.   

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Year:  1995        PMID： 7668303      PMCID： PMC1801260     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  4 in total

1.  Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

Authors:  K Ben Othmane; M Ben Hamida; M A Pericak-Vance; C Ben Hamida; S Blel; S C Carter; A M Bowcock; K Petruhkin; T C Gilliam; A D Roses
Journal:  Nat Genet       Date:  1992-12       Impact factor: 38.330

2.  Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM).

Authors:  R S Spielman; R E McGinnis; W J Ewens
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

3.  Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.

Authors:  S L Roberds; F Leturcq; V Allamand; F Piccolo; M Jeanpierre; R D Anderson; L E Lim; J C Lee; F M Tomé; N B Romero
Journal:  Cell       Date:  1994-08-26       Impact factor: 41.582

4.  Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.

Authors:  K Azibi; L Bachner; J S Beckmann; K Matsumura; E Hamouda; M Chaouch; A Chaouch; R Ait-Ouarab; A Vignal; J Weissenbach
Journal:  Hum Mol Genet       Date:  1993-09       Impact factor: 6.150
  4 in total
  9 in total

1.  Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.

Authors:  E M McNally; M R Passos-Bueno; C G Bönnemann; M Vainzof; E de Sá Moreira; H G Lidov; K B Othmane; P H Denton; J M Vance; M Zatz; L M Kunkel
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

2.  Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.

Authors:  T Weiler; C R Greenberg; E Nylen; W Halliday; K Morgan; D Eggertson; K Wrogemann
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

3.  Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.

Authors:  Mainak Bardhan; Ram Murthy Anjanappa; Kiran Polavarapu; Veeramani Preethish-Kumar; Seena Vengalil; Saraswati Nashi; Shamita Sanga; Hansashree Padmanabh; Ravi Kiran Valasani; Vikas Nishadham; Muddasu Keerthipriya; Thenral S Geetha; Vedam Ramprasad; Gautham Arunachal; Priya Treesa Thomas; Moulinath Acharya; Atchayaram Nalini
Journal:  Neurogenetics       Date:  2022-04-13       Impact factor: 3.017

4.  Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population.

Authors:  Fatiha El Kerch; Ilham Ratbi; Aziza Sbiti; Fatima-Zohra Laarabi; Amina Barkat; Abdelaziz Sefiani
Journal:  Genet Test Mol Biomarkers       Date:  2014-02-19

Review 5.  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

6.  An AAV-SGCG Dose-Response Study in a γ-Sarcoglycanopathy Mouse Model in the Context of Mechanical Stress.

Authors:  David Israeli; Jérémie Cosette; Guillaume Corre; Fatima Amor; Jérôme Poupiot; Daniel Stockholm; Marie Montus; Bernard Gjata; Isabelle Richard
Journal:  Mol Ther Methods Clin Dev       Date:  2019-05-10       Impact factor: 6.698

7.  Duchenne and Becker muscular dystrophy: contribution of a molecular and immunohistochemical analysis in diagnosis in Morocco.

Authors:  Hanane Bellayou; Khalil Hamzi; Mohamed Abdou Rafai; Mehdi Karkouri; Ilham Slassi; Houssine Azeddoug; Sellama Nadifi
Journal:  J Biomed Biotechnol       Date:  2009-05-19

Review 8.  A Journey with LGMD: From Protein Abnormalities to Patient Impact.

Authors:  Dimitra G Georganopoulou; Vasilis G Moisiadis; Firhan A Malik; Ali Mohajer; Tanya M Dashevsky; Shirley T Wuu; Chih-Kao Hu
Journal:  Protein J       Date:  2021-06-10       Impact factor: 2.371

9.  A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.

Authors:  E S Moreira; M Vainzof; S K Marie; V Nigro; M Zatz; M R Passos-Bueno
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318
  9 in total

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