Duchenne muscular dystrophy as a contiguous gene syndrome: Del (X)(p21.2p21.3) with absence of dystrophin but normal multiplex PCR

International Pediatrics

Volumn 16, Issue 3, 2001, Pages 168-172

  Shrimpton, A E ^a   Thomson, L L ^a   Hoo, J J ^a  

^a SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

Author keywords

Contiguous gene syndrome; Duchenne muscular dystrophy; Dystrophin; Multiple PCR

Indexed keywords

CONTIG; CREATINE KINASE; DNA; DYSTROPHIN; GLYCEROL KINASE;

ARTICLE; CASE REPORT; CHROMOSOME DELETION X; CHROMOSOME MARKER; CHROMOSOME XP; CONTROLLED STUDY; DUCHENNE MUSCULAR DYSTROPHY; ENZYME DEFICIENCY; GENE DELETION; HUMAN; HUMAN TISSUE; HYPOTHYROIDISM; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SYMPTOMATOLOGY;

EID: 0034821996     PISSN: 08856265     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Patterns of exon deletions in Duchenne and Becker muscular dystrophy
2. Cystic fibrosis mutation frequencies in upstate New York
3. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
4. Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia
5. Mental retardation locus in Xp21 chromosome microdeletion
6. Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum
7. The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced
8. Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystrophy patients: The use of new designed primers for the analysis of the major deletion "hotspot" region
9. An intact cysteinerich domain is required for dystrophin function