Article
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.
Neuromuscular disorders : NMD - 1 Nov 2014
Bolocan Anamaria, Quijano-Roy Susana, Seferian Andreea M, Baumann Clarisse, Allamand Valérie, Richard Pascale, Estournet Brigitte, Carlier Robert, Cavé Hélène, Gartioux Corine, Blin Nathalie, Le Moing Anne-Gaëlle, Gidaro Teresa, Germain Dominique P, Fardeau Michel, Voit Thomas, Servais Laurent, Romero Norma Beatriz
Abstract excerpt
We report on a 5-year-old girl who presented with an association of symptoms reminiscent of an Ullrich-like congenital muscular dystrophy including congenital hypotonia, proximal joint contractures, hyperlaxity of distal joints, normal cognitive development, and kyphoscoliosis. There was an excess of neuromuscular spindles on the skeletal muscle biopsy. This very peculiar feature on muscle biopsy has been...
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