Article
Ultrastructural changes in LGMD1F.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Jun 2013
Cenacchi Giovanna, Peterle Enrico, Fanin Marina, Papa Valentina, Salaroli Roberta, Angelini Corrado
Abstract excerpt
A large Italo-Spanish kindred with autosomal-dominant inheritance has been reported with proximal limb and axial muscle weakness. Clinical, histological and genetic features have been described. A limb girdle muscular dystrophy 1F (LGMD1F) disease locus at chromosome 7q32.1-32.2 has been previously identified. We report a muscle pathological study of two patients (mother and daughter) from this family. Muscle...
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