Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Research Abstract Details 

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Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Abstract Text:

Michela Guglieri,Francesca Magri,Maria Grazia D'Angelo,Alessandro Prelle,Lucia Morandi,Carmelo Rodolico,Rachele Cagliani,Marina Mora,Francesco Fortunato,Andreina Bordoni,Roberto Del Bo,Serena Ghezzi,Serena Pagliarani,Sabrina Lucchiari,Sabrina Salani,Chiara Zecca,Costanza Lamperti,Dario Ronchi,Mohammed Aguennouz,Patrizia Ciscato,Claudia Di Blasi,Alessandra Ruggieri,Isabella Moroni,Anna Turconi,Antonio Toscano,Maurizio Moggio,Nereo Bresolin,Giacomo P Comi,Michela Guglieri,Francesca Magri,Maria Grazia D'Angelo,Alessandro Prelle,Lucia Morandi,Carmelo Rodolico,Rachele Cagliani,Marina Mora,Francesco Fortunato,Andreina Bordoni,Roberto Del Bo,Serena Ghezzi,Serena Pagliarani,Sabrina Lucchiari,Sabrina Salani,Chiara Zecca,Costanza Lamperti,Dario Ronchi,Mohammed Aguennouz,Patrizia Ciscato,Claudia Di Blasi,Alessandra Ruggieri,Isabella Moroni,Anna Turconi,Antonio Toscano,Maurizio Moggio,Nereo Bresolin,Giacomo P Comi,

Limb girdle muscular dystrophies (LGMD) are characterized by genetic and clinical heterogeneity: seven autosomal dominant and 12 autosomal recessive loci have so far been identified. Aims of this study were to evaluate the relative proportion of the different types of LGMD in 181 predominantly Italian LGMD patients (representing 155 independent families), to describe the clinical pattern of the different forms, and to identify possible correlations between genotype, phenotype, and protein expression levels, as prognostic factors. Based on protein data, the majority of probands (n=72) presented calpain-3 deficiency; other defects were as follows: dysferlin (n=31), sarcoglycans (n=32), alpha-dystroglycan (n=4), and caveolin-3 (n=2). Genetic analysis identified 111 different mutations, including 47 novel ones. LGMD relative frequency was as follows: LGMD1C (caveolin-3) 1.3%; LGMD2A (calpain-3) 28.4%; LGMD2B (dysferlin) 18.7%; LGMD2C (gamma-sarcoglycan) 4.5%; LGMD2D (alpha-sarcoglycan) 8.4%; LGMD2E (beta-sarcoglycan) 4.5%; LGMD2F (delta-sarcoglycan) 0.7%; LGMD2I (Fukutin-related protein) 6.4%; and undetermined 27.1%. Compared to Northern European populations, Italian patients are less likely to be affected with LGMD2I. The order of decreasing clinical severity was: sarcoglycanopathy, calpainopathy, dysferlinopathy, and caveolinopathy. LGMD2I patients showed both infantile noncongenital and mild late-onset presentations. Age at disease onset correlated with variability of genotype and protein levels in LGMD2B. Truncating mutations determined earlier onset than missense substitutions (20+/-5.1 years vs. 36.7+/-11.1 years; P=0.0037). Similarly, dysferlin absence was associated with an earlier onset when compared to partial deficiency (20.2+/-standard deviation [SD] 5.2 years vs. 28.4+/-SD 11.2 years; P=0.014).

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Publishing Authors By Initials

M Guglieri,F Magri,MG D'Angelo,A Prelle,L Morandi,C Rodolico,R Cagliani,M Mora,F Fortunato,A Bordoni,R Del Bo,S Ghezzi,S Pagliarani,S Lucchiari,S Salani,C Zecca,C Lamperti,D Ronchi,M Aguennouz,P Ciscato,C Di Blasi,A Ruggieri,I Moroni,A Turconi,A Toscano,M Moggio,N Bresolin,GP Comi,M Guglieri,F Magri,MG D'Angelo,A Prelle,L Morandi,C Rodolico,R Cagliani,M Mora,F Fortunato,A Bordoni,R Del Bo,S Ghezzi,S Pagliarani,S Lucchiari,S Salani,C Zecca,C Lamperti,D Ronchi,M Aguennouz,P Ciscato,C Di Blasi,A Ruggieri,I Moroni,A Turconi,A Toscano,M Moggio,N Bresolin,GP Comi,

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Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Human mutation

VOLUME: 29

Page Numbers: 258-66

Journal Abbreviation: Hum. Mutat.

ISSN: 1098-1004

DAY: 24

MONTH: Feb

YEAR: 2008

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Information

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LANGUAGE: eng

NlmUniqueID: 9215429

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AFFILIATION: Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, Milano, Italy.

Country: United States

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MEDLINETA: Hum Mutat

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