We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
- Authors
Monnier, Nicole
- Abstract
Presents genetic and biochemical evidence for a mutation in the skeletal muscle ryanodine receptor that is associated with congenital myopathy with rods and cores in a large French pedigree. Impairment of the cytoplasmic calcium homeostasis; Amino acid substitutions; Increase in the resting cytoplasmic of cells expressing the mutant channel.
- Subjects
FRANCE; RYANODINE; MUSCLE receptors; MUSCLE diseases; GENETIC mutation; LINKAGE (Genetics)
- Publication
Human Molecular Genetics, 2000, Vol 9, Issue 18, p2599
- ISSN
0964-6906
- Publication type
Article
- DOI
10.1093/hmg/9.18.2599