Affiliation: University of Padova
- Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern ItalyM Fanin
Regional Neuromuscular Center, Department of Neurological and Psychiatric Sciences, University of Padova, Italy
Hum Mutat 16:13-7. 2000..The recurrence of specific sarcoglycan mutations in Northern Italy is probably due to a founder effect, combined with a relative genetic isolation...
- Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathyM Fanin
Neuromuscular Center, Department of Neurological and Psychiatric Sciences, University of Padova, Italy
Neurology 56:660-5. 2001..Mutations in the genes encoding for calpain-3 and dysferlin are responsible for limb-girdle muscular dystrophy (LGMD) type 2A and 2B, the most common forms of autosomal recessive LGMD...