RYR1 Mutations, Exertional Myalgia and Rhabdomyolysis

J Gordon Millichap

doi:10.15844/pedneurbriefs-27-7-3

RYR1 Mutations, Exertional Myalgia and Rhabdomyolysis

Pediatric Neurology Briefs

Volume 27 (2013): Issue 7

By: J Gordon Millichap

Open Access

|Jul 2013

Abstract

Investigators at Guy’s & St Thomas’ Hospital, London, UK, and other centers sequenced RYR1 in 39 unrelated families with rhabdomyolysis and/or exertional myalgia and identified 9 heterozygous RYR1 mutations in 14 families, 5 of them previously associated with malignant hyperthermia (MH).

References

Dlamini N Voermans NC Lillis S Stewart K Kamsteeg EJ Drost G Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis Neuromuscul Disord 2013 Jul 23 7 540 8 10.1016/j.nmd.2013.03.008 23628358
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Brislin RP Theroux MC Core myopathies and malignant hyperthermia susceptibility: a review Paediatr Anaesth 2013 Sep 23 9 834 41 10.1111/pan.12175 23617272
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-27-7-3 | Journal eISSN: 2166-6482

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Language: English

Page range: 50 - 51

Published on: Jul 1, 2013

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Ryanodine Receptor Gene,

Malignant Hyperthermia,

Rhabdomyolysis

© 2013 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 27 (2013): Issue 7