Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Juan Mateu, Jons ^a,b   Rodríguez, Maria José ^a   Nascimento, Andrés ^c   Jiménez Mallebrera, Cecilia ^c   González Quereda, Lidia ^a   Rivas, Eloy ^d   Paradas, Carmen ^d   Madruga, Marcos ^d   Sánchez Ayaso, Pedro ^e   Jou, Cristina ^f   González Mera, Laura ^g   Munell, Francina ^h   Roig Quilis, Manuel ^h,i   Rabasa, Maria ^j   Hernández Lain, Aurelio ^k   Díaz Manera, Jorge ^l   Gallardo, Eduard ^l   Pascual, Jordi ^m   Verdura, Edgard ^a   Colomer, Jaume ^d   Baiget, Montserrat ^a   Olivé, Montse ^h   Gallano, Pia ^a   more..

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

^c Sant Joan de Déu Nursing s School University   (Spain)

^d HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^e HOSPITAL GENERAL UNIVERSITARIO DE ALBACETE   (Spain)

^f HOSPITAL SANT JOAN DE DÉU   (Spain)

^g HOSPITAL DE VILADECANS   (Spain)

^h HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

ⁱ HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

^j HOSPITAL UNIVERSITARIO DE FUENLABRADA   (Spain)

^k HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^l CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^m UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

more..

Author keywords

Becker muscular dystrophy; DMD; Duchenne muscular dystrophy; Dystrophin; Symptomatic carrier; X chromosome inactivation

Indexed keywords

DMD PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; DYSTROPHINOPATHY; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PROTEIN METHYLATION; REVIEW; SCHOOL CHILD; X CHROMOSOME INACTIVATION;

ADOLESCENT; ADULT; AGED; BIOPSY; CHILD; CHILD, PRESCHOOL; DYSTROPHIN; FEMALE; HETEROZYGOTE DETECTION; HUMANS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; PROGNOSIS; PROMOTER REGIONS, GENETIC; X CHROMOSOME INACTIVATION; YOUNG ADULT;

EID: 84867662051     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-82     Document Type: Review

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