Article
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Brain : a journal of neurology - 1 Aug 2007
Zhou Haiyan, Jungbluth Heinz, Sewry Caroline A, Feng Lucy, Bertini Enrico, Bushby Kate, Straub Volker, Roper Helen, Rose Michael R, Brockington Martin, Kinali Maria, Manzur Adnan, Robb Stephanie, Appleton Richard, Messina Sonia, D'Amico Adele, Quinlivan Ros, Swash Michael, Müller Clemens R, Brown Susan, Treves Susan, Muntoni Francesco
Abstract excerpt
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD). More recently, recessive RYR1 mutations have been described in few congenital myopathy patients with variable pathology, including multi-minicores. Although a clinical overlap between patients with dominant and recessive RYR1...
Topics
- Adult
- Amino Acid Sequence
- Child
- Female
- Humans
- Magnetic Resonance Imaging
- Male
- Molecular Sequence Data
- Muscle, Skeletal