Duchenne muscular dystrophy in a female patient with a karyotype of 46,X,i(X)(q10)

Tohoku Journal of Experimental Medicine

Volumn 222, Issue 2, 2010, Pages 149-153

  Ou, Zhanhui ^a   Li, Shaoying ^a   Li, Qing ^a   Chen, Xiaolin ^a   Liu, Weiqiang ^a   Sun, Xiaofang ^a  

^a GUANGZHOU MEDICAL UNIVERSITY   (China)

Author keywords

De novo mutation; Duchenne muscular dystrophy; Isochromosome Xq; Karyotype; Turner syndrome

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; CREATINE KINASE MB; DYSTROPHIN;

ARTICLE; CASE REPORT; CHILD; DUCHENNE MUSCULAR DYSTROPHY; ENZYME BLOOD LEVEL; FEMALE; GAIT DISORDER; GENE DELETION; GENE DOSAGE; GENE MUTATION; HUMAN; KARYOTYPE; MOTOR DYSFUNCTION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPERTROPHY; MUSCLE WEAKNESS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SHORT TANDEM REPEAT; X CHROMOSOME;

ADULT; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; FEMALE; HUMANS; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PARENTS; PEDIGREE; SIBLINGS; YOUNG ADULT;

EID: 77958095753     PISSN: 00408727     EISSN: 13493329     Source Type: Journal    
DOI: 10.1620/tjem.222.149     Document Type: Article

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