From gene to disease; the dystrophin gene involved in Duchenne and Becker muscular dystrophy;Van gen naar ziekte; het dystrofinegen, betrokken bij Duchenne- en Becker-spierdystrofie

Nederlands Tijdschrift voor Geneeskunde

Volumn 146, Issue 8, 2002, Pages 364-367

  Den Dunnen, J T ^a   De Visser, M ^a   Bakker, E ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN;

BECKER MUSCULAR DYSTROPHY; CAUSE OF DEATH; CHROMOSOME MOSAICISM; CLINICAL FEATURE; CYTOSKELETON; DIAGNOSTIC PROCEDURE; DISEASE COURSE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HEART ARREST; HEREDITARY SPINAL MUSCULAR ATROPHY; HETEROZYGOTE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; LUNG INSUFFICIENCY; MOLECULAR GENETICS; MUSCLE WEAKNESS; ONSET AGE; PHENOTYPE; PHYSICAL DISABILITY; PRENATAL DIAGNOSIS; REVIEW;

CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; FEMALE; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; SEX CHARACTERISTICS;

EID: 0037160703     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (14)

1. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy
2. A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene
3. Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels
4. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene
5. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
6. Dystrophin: The protein product of the Duchenne muscular dystrophy locus
7. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
8. The structural and functional diversity of dystrophin
9. Muscular dystrophies: Diseases of the dystrophin-glycoprotein complex
10. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
11. Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs
12. New possibilities for prenatal diagnosis of muscular dystrophies: Forced myogenesis with an adenoviral MyoD-vector
13. Germline mosaicism and Duchenne muscular dystrophy mutations