Article
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Human mutation - 1 Jun 2012
Klein Andrea, Lillis Suzanne, Munteanu Iulia, Scoto Mariacristina, Zhou Haiyan, Quinlivan Ros, Straub Volker, Manzur Adnan Y, Roper Helen, Jeannet Pierre-Yves, Rakowicz Wojtek, Jones David Hilton, Jensen Uffe Birk, Wraige Elizabeth, Trump Natalie, Schara Ulrike, Lochmuller Hanns, Sarkozy Anna, Kingston Helen, Norwood Fiona, Damian Maxwell, Kirschner Janbernd, Longman Cheryl, Roberts Mark, Auer-Grumbach Michaela, Hughes Imelda, Bushby Kate, Sewry Caroline, Robb Stephanie, Abbs Stephen, Jungbluth Heinz, Muntoni Francesco
Abstract excerpt
Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital myopathies associated with both dominant and recessive inheritance. Histopathological findings frequently feature central cores or multi-minicores, more rarely, type 1 predominance/uniformity, fiber-type disproportion, increased internal nucleation, and fatty and connective tissue. We describe 71 families, 35 associated with dominant RYR1...
Topics
- Child
- Child, Preschool
- Female
- Genes, Dominant
- Genes, Recessive
- Genotype
- Humans
- Infant