LGMD2A: Genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene

Brain

Volumn 128, Issue 4, 2005, Pages 732-742

  Saenz A ^a   Leturcq, F ^d   Cobo, A M ^a   Poza, J J ^a   Ferrer, X ^f   Otaegui, D ^a   Camano P ^a   Urtasun, M ^a   Vilchez J ^b   Gutierrez Rivas E ^c   Emparanza, J ^a   Merlini, L ^h   Paisan C ^a   Goicoechea, M ^a   Blazquez L ^a   Eymard, B ^e   Lochmuller, H ⁱ   Walter, M ⁱ   Bonnemann, C ^j   Figarella Branger, D ^g   Kaplan, J C ^d   Urtizberea, J A ^e   Marti Masso J F ^a   Lopez De Munain A ^a   more..

^a HOSPITAL DONOSTIA   (Spain)

^b HOSPITAL UNIVERSITARIO LA FE   (Spain)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^d Hôpital Cochin ^*  (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f HAUT LÉVÊQUE HOSPITAL   (France)

^g Lab Biopath Nerv/Musc La Timone   (France)

^h RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

ⁱ LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^j UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

more..

Author keywords

Bayesian analysis; Calpain 3; Clinical phenotype; Epidemiology; Limb girdle muscular dystrophy type 2A; Western blot

Indexed keywords

CALPAIN 3; CALPAIN; CAPN3 PROTEIN, HUMAN; ISOENZYME; MUSCLE PROTEIN;

ADULT; ARTICLE; CAPN3 GENE; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DIAGNOSTIC ACCURACY; EXON; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENE; GENE MUTATION; GENOTYPE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY 2A; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; WESTERN BLOTTING; WHEELCHAIR; ADOLESCENT; BAYES THEOREM; CHILD; CLINICAL TRIAL; DISEASE COURSE; GENETICS; METHODOLOGY; MIDDLE AGED; MULTICENTER STUDY; NUCLEOTIDE SEQUENCE; RETROSPECTIVE STUDY;

ADOLESCENT; ADULT; AGE OF ONSET; BAYES THEOREM; BLOTTING, WESTERN; CALPAIN; CHILD; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; ISOENZYMES; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION, MISSENSE; PHENOTYPE; RETROSPECTIVE STUDIES;

EID: 20144389936     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awh408     Document Type: Article

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