Novel 3678delA Mutation in Exon 26 of the Dystrophin Gene Causing Duchenne Muscular Dystrophy

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Agarwal Mawa, Alka ^a   Vanasse, Michel ^a   Simard, Louise R ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DYSTROPHIN;

ARTICLE; CASE REPORT; DUCHENNE MUSCULAR DYSTROPHY; FAMILY STUDY; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; CHEMISTRY; EXON; FAMILY HEALTH; FEMALE; GENE DELETION; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE;

DNA; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; EXONS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; SEQUENCE DELETION;

EID: 21544462322     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110108     Document Type: Article

References (12)

1. Akalin N, Zietkiewicz E, Makailowski W, Labuda D (1994) Are CpG sites mutation hot spots in the dystrophin gene? Hum Mol Genet 3:1425-1426.
2. Begs AH, Koenig M, Boyce FM, Kunkel LM (1990) Detection of 98% DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86:45-48.
3. Bulman DE, Gangopadhyay SB, Bebchuck KG, Worton RG, Ray PN (199 1) Point mutation in the human dystrophin gene: Identification through western blot analysis. Genomics 10:457-460.
4. Chamberlain JS, Gibbs FU, Ranier JE, Caskey CT (1990) Multiplex PCR for the diagnosis of Duchenne muscular dystrophy. In Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds): PCR Protocols: A Guide to Methods and Applications. San Diego: Academic Press, pp 272-282.
5. den Dunnen JT Grootscholten PM, Bakker E, Blonden LAJ, Ginjaar HB, Wapenaar MC, van Paassen HMB, van Broeckhoven C, Pearson E van Ommen GJB (1989) Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 45:835-847.
6. Forrest SM, Cross GS, Flint T, Speer A, Robson KJH, Davies KE(1988) Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics 2: 109-1 14.
7. Gardner RJ, Bobrow M, Roberts RG (1995) The identification of point mutations in Duchenne muscular dystrophy patients by using reverse- transcription PCR and the protein truncation test. Am J Hum Genet 57:311-320.
8. Koenig M, Hoffman EE Bertelson CJ, Monaco Af: Feener C, Kunkel LM (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509-517.
9. Prior TM, Bartolo C, Pearl DK, Papp AC, Snyder PJ, Sedra MS, Burghes AHM, Mendell JR (1995) Spectrum of small mutations in the dystrophin coding region. Am J Hum Genet 57:22-33.
10. Roberts RG, Gardner RJ, Bobrow M (1994) Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations. Hum Mutat 4:l-11.
11. Simard LR, Gingras F, Delvoye N, Vanasse M, Melancon SB, Labuda D (1992) Deletions in the dystrophingene: Analysis of Duchenne and Becker muscular dystrophy patients in Quebec. Hum Genet 89:419-424.
12. Wilton SD, Chandler DC, Kakulas BA, Laing NG (1994) Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family. Hum Mutat 3: 133-140.