Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

Acta Neuropathologica

Volumn 124, Issue 4, 2012, Pages 575-581

  Böhm, Johann ^a,b,c,d   Leshinsky Silver, Esther ^e,f   Vassilopoulos, Stéphane ^g   Le Gras, Stéphanie ^a   Lerman Sagie, Tally ^e,f   Ginzberg, Mira ^e   Jost, Bernard ^a   Lev, Dorit ^e,f   Laporte, Jocelyn ^a,b,c,d  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b INSERM   (France)

^c CNRS   (France)

^d Paris Sciences et Lettres   (France)

^e WOLFSON MEDICAL CENTER   (Israel)

^f TEL AVIV UNIVERSITY   (Israel)

^g SORBONNE UNIVERSITÉ   (France)

Author keywords

Congenital myopathy; Exome sequencing; Malignant hyperthermia; RYR1; Samaritan

Indexed keywords

AMPHIPHYSIN; CAVEOLIN 3; CYSTEINE; DYSFERLIN; RYANODINE RECEPTOR 1; TYROSINE;

ADULT; ARTICLE; CASE REPORT; CONGENITAL DISORDER; CONTROLLED STUDY; DISEASE PREDISPOSITION; DISEASE SEVERITY; ENDOPLASMIC RETICULUM; ETHNIC GROUP; EXCITATION CONTRACTION COUPLING; EXOME; FAMILY STUDY; GENE; GENE MUTATION; GENE SEQUENCE; HEALTH STATUS; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; IMMUNOHISTOCHEMISTRY; LINKAGE ANALYSIS; MALIGNANT HYPERTHERMIA; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; MYOPATHY; NEWBORN DISEASE; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; POPULATION RESEARCH; PRIORITY JOURNAL; RYR1 GENE; SAMARITAN; SAMARITAN CONGENITAL MYOPATHY; SKELETAL MUSCLE; WESTERN BLOTTING;

BLOTTING, WESTERN; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; MYOPATHY, CENTRAL CORE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; YOUNG ADULT;

EID: 84866548633     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-012-1007-3     Document Type: Article

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