De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins

European Journal of Medical Genetics

Volumn 54, Issue 1, 2011, Pages 29-33

  Hernandez Lain, Aurelio ^a,b   Husson, Isabelle ^c   Monnier, Nicole ^d,e   Farnoux, Caroline ^c   Brochier, Guy ^a   Lacène, Emmanuelle ^a   Beuvin, Maud ^a   Mait Viou, ^a   Manéré, Linda ^a   Claeys, Kristl G ^a   Fardeau, Michel ^a   Lunardi, Joël ^d,e   Voit, Thomas ^a   Romero, Norma Beatriz ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d GRENOBLE UNIVERSITY HOSPITAL   (France)

^e GRENOBLE INSTITUT DES NEUROSCIENCES   (France)

Author keywords

Congenital myopathy; RYR1 gene

Indexed keywords

ALPHA ACTININ 1; NEBULIN; RYANODINE RECEPTOR 1;

ACTA1 GENE; ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CONGENITAL DISORDER; CORE ROD MYOPATHY; DYSPHAGIA; ELECTRON MICROSCOPY; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; HYDRAMNIOS; INFANT; MALE; MICROSCOPY; MONOZYGOTIC TWINS; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE HYPOTONIA; MYOPATHY; NUCLEOTIDE SEQUENCE; TMP2 GENE; TMP3 GENE;

ACTINS; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICROSCOPY, ELECTRON; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, NEMALINE; MYOPATHY, CENTRAL CORE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; TWINS;

EID: 79951945091     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.09.009     Document Type: Article

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