Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

Duarte, Sofia T

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. [electronic resource] - Muscle & nerve Jul 2011 - 102-8 p. digital

Publication Type: Comparative Study; Journal Article; Review

1097-4598

10.1002/mus.22009 doi


Adult
Aged
Deltoid Muscle--pathology
Female
Genes, Dominant--genetics
Genes, Recessive--genetics
Humans
Male
Malignant Hyperthermia--diagnosis
Middle Aged
Muscular Diseases--diagnosis
Mutation--genetics
Myopathy, Central Core--diagnosis
Pedigree
Ryanodine Receptor Calcium Release Channel--genetics
Young Adult