Novel RYR1 missense mutation causes core rod myopathy.
von der Hagen
M
M
Kress
W
W
Hahn
G
G
Brocke
K S
KS
Mitzscherling
P
P
Huebner
A
A
Müller-Reible
C
C
Stoltenburg-Didinger
G
G
Kaindl
A M
AM
D000293:Adolescent; D000346:Afghanistan / Q000208:ethnology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D018482:Muscle, Skeletal / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D017696:Myopathies, Nemaline / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
D019837:Ryanodine Receptor Calcium Release Channel