Variable phenotype of del45-55 becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation

Human Molecular Genetics

Volumn 21, Issue 15, 2012, Pages 3449-3460

  Gentil, Christel ^a   Leturcq, France ^b,c   Ben Yaou, Rabah ^b,d   Kaplan, Jean Claude ^c   Laforet, Pascal ^d   Pénisson Besnier, Isabelle ^e   Espil taris, Caroline ^f   Voit, Thomas ^a   Garcia, Luis ^a   Piétri Rouxel, France ^a  

^a INSERM   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c INSTITUT COCHIN   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e ANGERS UNIVERSITY HOSPITAL   (France)

^f HÔPITAL PELLEGRIN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN; NEURONAL NITRIC OXIDE SYNTHASE; NEURONAL NITRIC OXIDE SYNTHASE MU; NITRIC OXIDE; RYANODINE RECEPTOR 1; UNCLASSIFIED DRUG;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; CYTOSOL; DISEASE SEVERITY; ENZYME LOCALIZATION; EXON SKIPPING; GENE DELETION; HUMAN; HUMAN TISSUE; NITROSYLATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN SECRETION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DYSTROPHIN; EXONS; GENE DELETION; HUMANS; MIDDLE AGED; MUSCULAR DYSTROPHY, DUCHENNE; NITRIC OXIDE SYNTHASE TYPE I; PHENOTYPE; RNA, MESSENGER; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SEQUENCE DELETION; TACROLIMUS BINDING PROTEINS;

EID: 84864516708     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds176     Document Type: Article

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