Article
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.
Neuromuscular disorders : NMD - 1 Aug 2016
Scalco Renata Siciliani, Gardiner Alice R, Pitceathly Robert D S, Hilton-Jones David, Schapira Anthony H, Turner Chris, Parton Matt, Desikan Mahalekshmi, Barresi Rita, Marsh Julie, Manzur Adnan Y, Childs Anne-Marie, Feng Lucy, Murphy Elaine, Lamont Phillipa J, Ravenscroft Gianina, Wallefeld William, Davis Mark R, Laing Nigel G, Holton Janice L, Fialho Doreen, Bushby Kate, Hanna Michael G, Phadke Rahul, Jungbluth Heinz, Houlden Henry, Quinlivan Ros
Abstract excerpt
Rhabdomyolysis is often due to a combination of environmental trigger(s) and genetic predisposition; however, the underlying genetic cause remains elusive in many cases. Mutations in CAV3 lead to various neuromuscular phenotypes with partial overlap, including limb girdle muscular dystrophy type 1C (LGMD1C), rippling muscle disease, distal myopathy and isolated hyperCKemia. Here we present a series of eight...
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