Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

OBJECTIVE:To determine the clinical spectrum of limb-girdle muscular dystrophy 2E (LGMD2E) and to investigate whether genetic or biochemical features can predict the phenotype of the disease. METHODS:All LGMD2E patients followed in participating centers were included. A specific clinical protocol wa...

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Veröffentlicht in:	Neurology 2015-04, Vol.84 (17), p.1772-1781
Hauptverfasser:	Semplicini, Claudio, Vissing, John, Dahlqvist, Julia R, Stojkovic, Tanya, Bello, Luca, Witting, Nanna, Duno, Morten, Leturcq, France, Bertolin, Cinzia, DʼAmbrosio, Paola, Eymard, Bruno, Angelini, Corrado, Politano, Luisa, Laforêt, Pascal, Pegoraro, Elena
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age Factors Aged Child Consanguinity Female Humans Male Middle Aged Mutation - genetics Phenotype Prognosis Sarcoglycanopathies - genetics Sarcoglycanopathies - metabolism Sarcoglycanopathies - physiopathology Sarcoglycans - genetics Sarcoglycans - metabolism Severity of Illness Index Young Adult
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