Congenital RYR1-Associated Myopathies

J Gordon Millichap

doi:10.15844/pedneurbriefs-27-7-2

Congenital RYR1-Associated Myopathies

Pediatric Neurology Briefs

Volume 27 (2013): Issue 7

By: J Gordon Millichap

Open Access

|Jul 2013

Abstract

Investigators from the Children’s Hospital of Philadelphia, NINDS, and other centers in the US and France, report a series of 11 patients with severe neonatal RYR1-associated myopathy confirmed by genetic testing.

References

Bharucha-Goebel DX Santi M Medne L Zukosky K Dastgir J Shieh PB Severe congenital RYR1-associated myopathy. The expanding clinicopathologic and genetic spectrum Neurology 2013 Apr 23 80 17 1584 9 10.1212/WNL.0b013e3182900380 23553484
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Maggi L Scoto M Cirak S Robb SA Klein A Lillis S Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom Neuromuscul Disord 2013 Mar 23 3 195 205 10.1016/j.nmd.2013.01.004 23394784
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-27-7-2 | Journal eISSN: 2166-6482

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Language: English

Page range: 50 - 50

Published on: Jul 1, 2013

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Muscle Ultrasound,

Central Core Disease,

Muscle Biopsy

© 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