Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

(2012) Johann Böhm et al.   ACTA NEUROPATHOLOGICA

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

(2012) Andrea Klein et al.   HUMAN MUTATION

Clinical Approach to the Diagnosis of Congenital Myopathies

(2011) Kathryn N. North   Seminars in Pediatric Neurology

RYR1 mutations are a common cause of congenital myopathies with central nuclei

(2010) J.M. Wilmshurst et al.   ANNALS OF NEUROLOGY

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

(2010) Nigel F. Clarke et al.   HUMAN MUTATION

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm

(2008) S TREVES et al.   CURRENT OPINION IN PHARMACOLOGY

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores

(2008) Nicole Monnier et al.   HUMAN MUTATION

What’s new in congenital myopathies?

(2008) Kathryn North   NEUROMUSCULAR DISORDERS