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

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

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

Centronuclear myopathies: A widening concept

(2010) Norma Beatriz Romero   NEUROMUSCULAR DISORDERS

Increasing the number of diagnostic mutations in malignant hyperthermia

(2009) Soledad Levano et al.   HUMAN MUTATION

Pathological defects in congenital myopathies

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

G.P.1.07 Progressive muscle biopsies morphological changes in long-term follow-up of multiminicore disease related to RYR1 gene

(2009) A.L. Taratuto et al.   NEUROMUSCULAR DISORDERS

First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia

(2009) Nicole Monnier et al.   NEUROMUSCULAR DISORDERS

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

(2009) L. Al-Qusairi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

(2008) Jorge A. Bevilacqua et al.   ACTA NEUROPATHOLOGICA

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

KING-DENBOROUGH SYNDROME CAUSED BY A NOVEL MUTATION IN THE RYANODINE RECEPTOR GENE

(2008) C. E. D'Arcy et al.   NEUROLOGY

Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene

(2008) K.G. Claeys et al.   NEUROMUSCULAR DISORDERS