Erschienen in:
01.06.2015 | Letter to the Editors
A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease
verfasst von:
Julia M. Henry, Nizar Chahin, Yael Shiloh-Malawsky, Zheng Fan, Duygu Selcen
Erschienen in:
Journal of Neurology
|
Ausgabe 6/2015
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Excerpt
HRAS is a member of the RAS family of GTP-binding proteins involved in cell signaling and growth promotion [
1]. Costello syndrome (CS) (MIM#218040) results from activating mutations of the Ras–MAPK–ERK signaling cascade [
2], often a gain of function mutation in HRAS (MIM*190020) [
1]. A more recently discovered syndrome, congenital myopathy with excess of muscle spindles (CMEMS) (#218040), has also been linked to mutations of HRAS, and is considered a variant of CS. To date six cases of CMEMS have been reported [
2]. We report a case of CMEMS who, to our knowledge, outlived all other reported cases of this devastating syndrome and who had autopsy results to further define the phenotype. …