Article
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.
Neuromuscular disorders : NMD - 1 Jun 2018
Brusa Roberta, Magri Francesca, Papadimitriou Dimitra, Govoni Alessandra, Del Bo Roberto, Ciscato Patrizia, Savarese Marco, Cinnante Claudia, Walter Maggie C, Abicht Angela, Bulst Stefanie, Corti Stefania, Moggio Maurizio, Bresolin Nereo, Nigro Vincenzo, Comi Giacomo Pietro
Abstract excerpt
Limb girdle muscular dystrophy (LGMD) type 2G is a rare form of muscle disease, described only in a few patients worldwide, caused by mutations in TCAP gene, encoding the protein telethonin. It is characterised by proximal limb muscle weakness associated with distal involvement of lower limbs, starting in the first or second decade of life. We describe the case of a 37-year-old woman of Greek origin, affected by...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.