Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

Brain

Volumn 126, Issue 11, 2003, Pages 2341-2349

  Romero, Norma Beatriz ^a   Monnier, Nicole ^e   Viollet, Louis ^c   Cortey, Anne ^d   Chevallay, Martine ^a   Leroy, Jean Paul ^e   Lunardi, Joël ^b   Fardeau, Michel ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIV GRENOBLE ALPES   (France)

^c RAYMOND POINCARÉ HOSPITAL   (France)

^d UNIVERSITY HOSPITAL OF NANCY   (France)

^e NONE

Author keywords

Central core disease; Fetal akinesia; RYR1 mutations

Indexed keywords

COMPLEMENTARY DNA; RNA; RYANODINE RECEPTOR;

AKINESIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BONE MALFORMATION; CENTRONUCLEAR MYOPATHY; CLINICAL ARTICLE; CONGENITAL HIP DISLOCATION; FAMILY STUDY; FETUS; FETUS DISEASE; GENE MUTATION; HUMAN; INFANT; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MYOPATHY; PRIORITY JOURNAL; RECEPTOR GENE; RYR1 GENE; SYMPTOMATOLOGY;

ABNORMALITIES, MULTIPLE; FEMALE; FETAL DISEASES; FETAL MOVEMENT; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; INFANT, NEWBORN; MALE; MOVEMENT DISORDERS; MUSCLE, SKELETAL; MYOPATHY, CENTRAL CORE; PEDIGREE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SYNDROME;

EID: 0142153182     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awg244     Document Type: Article

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