A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.

Journal of medical genetics

Volumn 44, Issue 2, 2007, Pages

  Rossi, Daniela ^a   De Smet, Patrick ^a   Lyfenko, Alla ^a   Galli, Lucia ^a   Lorenzini, Stefania ^a   Franci, Daniela ^a   Petrioli, Francesco ^a   Orrico, Alfredo ^a   Angelini, Corrado ^a   Tegazzin, Vincenzo ^a   Dirksen, Robert ^a   Sorrentino, Vincenzo ^a  

^a UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; DNA; MESSENGER RNA; RYANODINE RECEPTOR;

AGED; ANIMAL; ARTICLE; BIOPSY; BLOOD; CASE REPORT; CELL LINE; CYTOSOL; EXON; GENE DELETION; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE DETECTION; HUMAN; ISOLATION AND PURIFICATION; KIDNEY; LEUKOCYTE; MALE; MALIGNANT HYPERTHERMIA; METABOLISM; MOUSE; MOUSE MUTANT; MUSCLE CELL; MUSCLE CONTRACTION; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; SKELETAL MUSCLE;

AGED; ANIMALS; BIOPSY; CALCIUM; CELL LINE; CYTOSOL; DNA; EXONS; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE DETECTION; HUMANS; KIDNEY; LEUKOCYTES; MALE; MALIGNANT HYPERTHERMIA; MICE; MICE, KNOCKOUT; MUSCLE CONTRACTION; MUSCLE FIBERS; MUSCLE, SKELETAL; MUTATION; RNA, MESSENGER; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SEQUENCE DELETION;

EID: 34248378239     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2006.043794     Document Type: Article

References (0)