Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.

Schänzer, A; Rau, I; Kress, W; Köhler, A; Neubauer, B; Hahn, A

Schänzer, A; Rau, I; Kress, W; Köhler, A; Neubauer, B; Hahn, A.

Affiliation

Schänzer A; Institut für Neuropathologie, Universitätsklinikum Giessen, Germany. anne.schaenzer@patho.med.uni-giessen.de

Klin Padiatr ; 224(4): 256-8, 2012 Jul.

Article in En | MEDLINE | ID: mdl-22549471

Subject(s)

Dystrophin/genetics; Frameshift Mutation/genetics; Genetic Carrier Screening; Sarcoglycanopathies/genetics; X Chromosome Inactivation/genetics; Biopsy; Child, Preschool; Creatine Kinase/blood; Exons/genetics; Female; Genes, Recessive/genetics; Humans; Leukocytes/metabolism; Muscle, Skeletal/metabolism; Muscle, Skeletal/pathology; Polymerase Chain Reaction; Sarcoglycanopathies/diagnosis

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Collection: 01-internacional Database: MEDLINE Main subject: Dystrophin / Frameshift Mutation / X Chromosome Inactivation / Sarcoglycanopathies / Genetic Carrier Screening Type of study: Diagnostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: Klin Padiatr Year: 2012 Document type: Article Affiliation country: Germany Country of publication: Germany

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