A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.
In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for RYR1 and presented with the non-synonymous change c.11315G>A/p.R3772Q. When present in the homozygous state c.11315*A is associated with myopathic symptoms.
Carpenter
Danielle
D
MH Investigation Unit, Academic Unit Anaesthesia, St. James's University Hospital, Leeds LS9 7TF, UK. danielle.carpenter@nottingham.ac.uk
Ismail
Azzam
A
Robinson
Rachel L
RL
Ringrose
Christopher
C
Booms
Patrick
P
Iles
David E
DE
Halsall
P Jane
PJ
Steele
Derek
D
Shaw
Marie-Anne
MA
Hopkins
Philip M
PM
D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People; D003241:Consanguinity; D004247:DNA / Q000235:genetics; D018076:DNA, Complementary / Q000096:biosynthesis / Q000235:genetics; D005190:Family; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics*; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D013035:Spasm / Q000235:genetics / Q000473:pathology
D018076:DNA, Complementary; D019837:Ryanodine Receptor Calcium Release Channel; D004247:DNA