A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy

Neurology

Volumn 85, Issue 24, 2015, Pages 2126-2135

  De Cid, Rafael ^a,b,m   Ben Yaou, Rabah ^d,e   Roudaut, Carinne ^a,b   Charton, Karine ^a,b   Baulande, Sylvain ^f   Leturcq, France ^d,g   Romero, Norma Beatriz ^c,d,e   Malfatti, Edoardo ^d,e   Beuvin, Maud ^c,d   Vihola, Anna ^g   Criqui, Audrey ^f   Nelson, Isabelle ^d   Nectoux, Juliette ^h   Ben Aim, Laurène ⁱ   Caloustian, Christophe ⁱ   Olaso, Robert ⁱ   Udd, Bjarne ^g,j,k,l   Bonne, Gisèle ^d   Eymard, Bruno ^e   Richard, Isabelle ^a,b  

^a INSERM   (France)

^b GÉNÉTHON   (France)

^c Myology Institute   (United States)

^d Sorbonne Université   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g Parc Scientifique de Luminy   (France)

^h UNIVERSITY OF HELSINKI   (Finland)

ⁱ CEA IG Centre National de Genotypage ^*  (France)

^j CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^k TAMPERE UNIVERSITY HOSPITAL   (Finland)

^l VAASA CENTRAL HOSPITAL   (Finland)

^m Institut de Medicina Predictiva i Personalitzada del Cancer IMPPC   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3; CONNECTIN; UNCLASSIFIED DRUG; TTN PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CHILDHOOD; CLINICAL FEATURE; CONTRACTURE; EMERY DREIFUSS MUSCULAR DYSTROPHY; ENZYME DEFICIENCY; EXOME; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; JOINT CONTRACTURE; MALE; MIDDLE AGED; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; STOP CODON; WESTERN BLOTTING; YOUNG ADULT; FRAMESHIFT MUTATION; GENETICS; MUSCULAR DYSTROPHY, EMERY-DREIFUSS;

CARDIOMYOPATHIES; CONNECTIN; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; PHENOTYPE; YOUNG ADULT;

EID: 84951304486     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000002200     Document Type: Article

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