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

Neuropathology and Applied Neurobiology

Volumn 37, Issue 3, 2011, Pages 271-284

  Bevilacqua, J A ^a,b   Monnier, N ^a   Bitoun, M ^a   Eymard, B ^c   Ferreiro, A ^c,d   Monges, S ^e   Lubieniecki, F ^f   Taratuto, A L ^g   Laquerriere A ^h   Claeys, K G ^a,c   Marty, I ^a   Fardeau, M ^a,c   Guicheney, P ⁱ   Lunardi, J ^a   Romero, N B ^a,c  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b INSERM   (France)

^c GRENOBLE UNIVERSITY HOSPITAL   (France)

^d GRENOBLE INSTITUT DES NEUROSCIENCES   (France)

^e ROUEN UNIVERSITY HOSPITAL   (France)

^f UNIVERSITY OF CHILE   (Chile)

^g Rouen University Hospital ^*  (Argentina)

^h Garrahan National Paediatric Hospital   (Argentina)

ⁱ FLENI   (Argentina)

Author keywords

Congenital myopathy; Myofibrillar disorganization; Nuclear internalization; Recessive mutations; RYR1 gene

Indexed keywords

MEMBRANE PROTEIN; RYANODINE RECEPTOR 1;

ADOLESCENT; ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL STRUCTURE; CHILD; CLINICAL ARTICLE; CYTOPLASM; DISEASE SEVERITY; ELECTRON MICROSCOPY; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERTHERMIA; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MALIGNANT HYPERTHERMIA; MICROSCOPY; MUSCLE BIOPSY; MUSCLE FIBRIL; MYOPATHY; NEWBORN PERIOD; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; RECESSIVE GENE; SARCOMERE; SCHOOL CHILD; WEAKNESS;

ADOLESCENT; ADULT; CELL NUCLEUS; CHILD; FEMALE; GENES, RECESSIVE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUTATION; MYOFIBRILS; MYOPATHY, CENTRAL CORE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; YOUNG ADULT;

EID: 79951792420     PISSN: 03051846     EISSN: 13652990     Source Type: Journal    
DOI: 10.1111/j.1365-2990.2010.01149.x     Document Type: Article

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