Novel RYR1 missense mutation causes core rod myopathy

European Journal of Neurology

Volumn 15, Issue 4, 2008, Pages

  Von Der Hagen, M ^a   Kress, W ^b   Hahn, G ^a   Brocke, K S ^a   Mitzscherling, P ^c   Huebner, A ^c   Muller Reible C ^b   Stoltenburg Didinger, G ^d   Kaindl, A M ^d,e  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e INSERM   (France)

Author keywords

Core rod myopathy; Ryanodine receptor

Indexed keywords

CREATINE KINASE; RYANODINE RECEPTOR 1;

ACHILLES TENDON; AFGHANISTAN; CELL SIZE; CREATINE KINASE BLOOD LEVEL; ELECTRON MICROSCOPY; FOOT MALFORMATION; GENETIC ANALYSIS; HAPLOTYPE; HEART FUNCTION; HISTOPATHOLOGY; HUMAN; LETTER; MISSENSE MUTATION; MOTOR DEVELOPMENT; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE HYPOTONIA; MYALGIA; NEMALINE MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; RESPIRATORY FUNCTION; TENDON CONTRACTURE;

ADOLESCENT; AFGHANISTAN; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MUSCLE, SKELETAL; MUTATION, MISSENSE; MYOPATHIES, NEMALINE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 41049093633     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2008.02094.x     Document Type: Letter

References (4)

1. Jungbluth H, Davies MR, Muller C, et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscular Disorders 2004 14 : 785 790.
2. Monnier N, Romero NB, Lerale J, et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neo mutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Human Molecular Genetics 2000 9 : 2599 2608.
3. 2+ release channel (ryanodine receptor) of rabbit skeletal muscle sarcoplasmic reticulum. The Journal of Biological Chemistry 1999 273 : 31867 31872.
4. Galli L, Orrico A, Cozzolini S, et al. Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region. Cell Calcium 2002 32 : 143 151.