Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6041339 | Neuromuscular Disorders | 2014 | 6 Pages |
Abstract
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 reported only in patients with mutations in the HRAS gene. Sequence analysis of the subject's HRAS gene from blood leukocytes and skeletal muscle revealed a previously described heterozygous missense mutation (c.187G>A, p. Glu63Lys). The present report thus extends the differential diagnosis of congenital muscular dystrophy with major “retractile” phenotypes and adds congenital muscular dystrophy to the clinical spectrum of HRAS-related disorders.
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Authors
Anamaria Bolocan, Susana Quijano-Roy, Andreea M. Seferian, Clarisse Baumann, Valérie Allamand, Pascale Richard, Brigitte Estournet, Robert Carlier, Hélène Cavé, Corine Gartioux, Nathalie Blin, Anne-Gaëlle Le Moing, Teresa Gidaro,