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. Author manuscript; available in PMC: 2012 Sep 1.
Published in final edited form as: Mol Genet Metab. 2011 Jul 12;104(1-2):167–173. doi: 10.1016/j.ymgme.2011.07.001

Table 1.

RYR1 Mutations and Variants Evaluated by Microarray Analysis n=34

EMHG-1* EMHG-2** OTHER1*** OTHER2****
C35R L13R R1043C S1342G
R163C M226K S3217P A1352G
G248R R367L R3772W E2880K
G341R D544Y I4938T G3806R
I403M R2336H P4501L
Y522S R2676W
R614C D2730G
R614L
V2168M
T2206M
A2350T
G2375A
R2435H
R2458C
R2458H
T4826I
R4861H
I4898T
*

Mutations functionally proven to be disease-causing by the European Malignant Hyperthermia Group (EMHG)

**

Variants that have met certain EMHG criteria for pathogenicity but are still being validated

***

Variants recently reported as associated with MHS but not yet validated as disease-causing

****

Variants recently reported that are likely to be neutral polymorphisms