Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
Central core disease (CCD) is a congenital myopathy due to dominant mutations in the skeletal muscle ryanodine receptor gene (RYR1). The authors report three patients from two consanguineous families with symptoms of a congenital myopathy, cores on muscle biopsy, and confirmed linkage to the RYR1 locus. Molecular genetic studies in one family identified a V4849I homozygous missense mutation in the RYR1 gene. This report suggests a congenital myopathy associated with recessive RYR1 mutations.
Jungbluth
H
H
Dubowitz Neuromuscular Centre, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London, UK.
Müller
C R
CR
Halliger-Keller
B
B
Brockington
M
M
Brown
S C
SC
Feng
L
L
Chattopadhyay
A
A
Mercuri
E
E
Manzur
A Y
AY
Ferreiro
A
A
Laing
N G
NG
Davis
M R
MR
Roper
H P
HP
Dubowitz
V
V
Bydder
G
G
Sewry
C A
CA
Muntoni
F
F
D001706:Biopsy; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006720:Homozygote; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
D019837:Ryanodine Receptor Calcium Release Channel