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Journal of Neurology
Published in: Journal of Neurology 6/2015

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

Authors: Julia M. Henry, Nizar Chahin, Yael Shiloh-Malawsky, Zheng Fan, Duygu Selcen

Published in: Journal of Neurology | Issue 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. …
Literature
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Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y (2005) Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 37(10):1038–1040CrossRefPubMed
2.
van der Burgt I, Kupsky W, Stassou S, Nadroo A, Barroso C, Diem A, Kratz CP, Dvorsky R, Ahmadian MR, Zenker M (2007) Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation. J Med Genet 44(7):459–462PubMedCentralCrossRefPubMed
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Stassou S, Nadroo A, Schubert R, Chin S, Gudavalli M (2005) A new syndrome of myopathy with muscle spindle excess. J Perinat Med 33(2):179–182CrossRefPubMed
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Bolocan A, Quijano-Roy S, Seferian AM, Baumann C, Allamand V, Richard P, Estournet B, Carlier R, Cavé H, Gartioux C, Blin N, Le Moing AG, Gidaro T, Germain DP, Fardeau M, Voit T, Servais L, Romero NB (2014) Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation. Neuromuscul Disord 24:993–998CrossRefPubMed
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Metadata
Title
A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease
Authors
Julia M. Henry
Nizar Chahin
Yael Shiloh-Malawsky
Zheng Fan
Duygu Selcen
Publication date
01-06-2015
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 6/2015
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-015-7775-7

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