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Titolo:
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation
Autore:
Merlini, L; Kaplan, JC; Navarro, C; Barois, A; Bonneau, D; Brasa, J; Echenne, B; Gallano, P; Jarre, L; Jeanpierre, M; Kalaydjieva, L; Leturcq, F; Levi-Gomes, A; Toutain, A; Tournev, I; Urtizberea, A; Vallat, JM; Voit, T; Warter, JM;
Indirizzi:
Ist Ortoped Rizzoli, Muscle Clin, I-40136 Bologna, Italy Ist Ortoped Rizzoli Bologna Italy I-40136 e Clin, I-40136 Bologna, Italy Hop R Poincare, Serv Pediat, Garches, France Hop R Poincare Garches France R Poincare, Serv Pediat, Garches, France CHU, Serv Genet Med, Poitiers, France CHU Poitiers FranceCHU, Serv Genet Med, Poitiers, France Hosp Xeral Cies, Dept Neuroradiol, Vigo, Spain Hosp Xeral Cies Vigo Spain sp Xeral Cies, Dept Neuroradiol, Vigo, Spain Hop St Eloi, Serv Neuropediat, Montpellier, France Hop St Eloi Montpellier France i, Serv Neuropediat, Montpellier, France Hosp St Pau, Dept Genet, Barcelona, Spain Hosp St Pau Barcelona SpainHosp St Pau, Dept Genet, Barcelona, Spain Regina Margherita Hosp, Dept Pediat Neurol, Turin, Italy Regina MargheritaHosp Turin Italy sp, Dept Pediat Neurol, Turin, Italy Hop Cochin, Lab Biochem & Genet, F-75674 Paris, France Hop Cochin Paris France F-75674 b Biochem & Genet, F-75674 Paris, France E Cowan Univ, Dept Human Biol, Joondalup, Australia E Cowan Univ Joondalup Australia Dept Human Biol, Joondalup, Australia Hosp Santa Maria, Dept Pediat Neurol, Lisbon, Portugal Hosp Santa Maria Lisbon Portugal , Dept Pediat Neurol, Lisbon, Portugal Hosp Meixoeiro, Serv Anat Patol, Vigo, Spain Hosp Meixoeiro Vigo SpainHosp Meixoeiro, Serv Anat Patol, Vigo, Spain Hop Bretonneau, Serv Genet, Tours, France Hop Bretonneau Tours FranceHop Bretonneau, Serv Genet, Tours, France Univ Sofia, Dept Neurol, Sofia, Bulgaria Univ Sofia Sofia BulgariaUniv Sofia, Dept Neurol, Sofia, Bulgaria Hop La Pitie Salpetriere, Inst Myol, Paris, France Hop La Pitie Salpetriere Paris France etriere, Inst Myol, Paris, France Hop Dupuytren, Dept Neurol, Limoges, France Hop Dupuytren Limoges France op Dupuytren, Dept Neurol, Limoges, France Univ Essen Gesamthsch, Dept Pediat, D-4300 Essen, Germany Univ Essen Gesamthsch Essen Germany D-4300 Pediat, D-4300 Essen, Germany Hop Civil, Dept Neurol, Strasbourg, France Hop Civil Strasbourg FranceHop Civil, Dept Neurol, Strasbourg, France
Titolo Testata:
NEUROLOGY
fascicolo: 5, volume: 54, anno: 2000,
pagine: 1075 - 1079
SICI:
0028-3878(20000314)54:5<1075:HPOTGL>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECESSIVE MUSCULAR-DYSTROPHY; FOUNDER MUTATION; GENE; LGMD2D;
Keywords:
limb-girdle muscular dystrophy; gamma-sarcoglycanopathy; gypsy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Merlini, L Ist Ortoped Rizzoli, Muscle Clin, Via Pupilli 1, I-40136 Bologna, Italy Ist Ortoped Rizzoli Via Pupilli 1 Bologna Italy I-40136 Italy
Citazione:
L. Merlini et al., "Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation", NEUROLOGY, 54(5), 2000, pp. 1075-1079

Abstract

Objective: To characterize the clinical phenotype of LGMD2C in gypsies. Background: Limb-girdle muscular dystrophy (LGMD) in gypsies of Western Europe is caused by a homozygous C283Y mutation on the same haplotype, suggesting a founder effect. Methods: We performed clinical, laboratory, and muscle imaging studies of 40 patients. Results: Mean age at onset was 5.3 years. One half of the patients had loss of ambulation by the age of 12; 13% still could walk after age 16. Calf hypertrophy, scapular winging, macroglossia, and lumbar hyperlordosis were common. Girdle, trunk, and proximal limb flexor muscles had earlier and more severe involvement. Cardiomyopathy was not observed. Five patients in the third decade of life required mechanical ventilation. Scoliosis was common in the nonambulatory stage. Conclusions: LGMD2C in gypsy patients with C283Y mutation presents a rather homogeneous phenotype, characterized by an initial Duchenne-like progressive course followed by a more prolonged survival rate possibly due to the absence of early respiratory impairment and cardiac failure.

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Documento generato il 29/03/20 alle ore 09:01:59