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

Functional Studies of RYR1 Mutations in the Skeletal Muscle Ryanodine Receptor Using Human RYR1 Complementary DNA

(2010) Keisaku Sato et al.   ANESTHESIOLOGY

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

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

(2010) J. A. Bevilacqua et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Pathological defects in congenital myopathies

(2009) Caroline A. Sewry   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

What’s new in congenital myopathies?

(2008) Kathryn North   NEUROMUSCULAR DISORDERS

Centronuclear (myotubular) myopathy

(2008) Heinz Jungbluth et al.   Orphanet Journal of Rare Diseases