A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia.

doi:10.1213/00000539-199209000-00022

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Article

A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia.

Anesthesia and analgesia - 1 Sept 1992

Hogan K, Couch F, Powers P A, Gregg R G

Abstract excerpt

A point mutation in the human gene for the skeletal muscle calcium release channel (ryanodine receptor [RYR1]) correlates with inheritance of malignant hyperthermia in a family of Northern European descent. The substitution of thymine for cytosine at position 1840 of the RYR1 transcript results i...

Topics

Adult
Alleles
Amino Acid Sequence
Animals
Arginine
Base Sequence
Cysteine
DNA
Family Health
Female
Gene Amplification
Humans
Male
Malignant Hyperthermia
Molecular Sequence Data
Muscle Proteins
Mutation
Pedigree

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