Central core disease due to recessive mutations in RYR1 gene: Is it more common than described?

Muscle and Nerve

Volumn 35, Issue 5, 2007, Pages 670-674

  Kossugue, Patrícia M ^a   Paim, Júlia F ^b   Navarro, Monica M ^b   Silva, Helga C ^a,c   Pavanello, Rita C M ^a   Gurgel Giannetti, Juliana ^d   Zatz, Mayana ^a   Vainzof, Mariz ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b SARAH NETWORK OF REHABILITATION HOSPITALS   (Brazil)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^d FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

Author keywords

Central core disease; Congenital myopathy; Malignant hyperthermia; Ryanodine receptor; RYR1

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAZIL; CENTRAL CORE DISEASE; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MALE; MALIGNANT HYPERTHERMIA; MUSCLE WEAKNESS; PRIORITY JOURNAL; RYR1 GENE; SCHOOL CHILD;

GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MUSCLES; MUTATION; MYOPATHY, CENTRAL CORE; PEDIGREE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 34247573351     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20715     Document Type: Article

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