Article
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
Human mutation - 1 Feb 2008
Guglieri Michela, Magri Francesca, D'Angelo Maria Grazia, Prelle Alessandro, Morandi Lucia, Rodolico Carmelo, Cagliani Rachele, Mora Marina, Fortunato Francesco, Bordoni Andreina, Del Bo Roberto, Ghezzi Serena, Pagliarani Serena, Lucchiari Sabrina, Salani Sabrina, Zecca Chiara, Lamperti Costanza, Ronchi Dario, Aguennouz Mohammed, Ciscato Patrizia, Di Blasi Claudia, Ruggieri Alessandra, Moroni Isabella, Turconi Anna, Toscano Antonio, Moggio Maurizio, Bresolin Nereo, Comi Giacomo P
Abstract excerpt
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,...
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