Dystrophin gene analysis on 76 families with dystrophinopathy

No To Hattatsu

Volumn 34, Issue 5, 2002, Pages 391-397

  Adachi, Kayo ^a   Yagi, Mariko ^a   Ito, Toshiyuki ^a   Takeshima, Yasuhiro ^a   Nishio, Hisahide ^a   Wada, Hiroko ^a   Nakamura, Hajime ^a   Matsuo, Masafumi ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DYSTROPHIN; MESSENGER RNA;

ARTICLE; BECKER MUSCULAR DYSTROPHY; DUCHENNE MUSCULAR DYSTROPHY; FAMILY STUDY; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; MAJOR CLINICAL STUDY; MUSCLE DISEASE; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; POINT MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING;

DYSTROPHIN; HUMANS; MUSCULAR DYSTROPHY, DUCHENNE;

EID: 0036039969     PISSN: 00290831     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

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2. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
3. Deletion in the dystrophin gene: Analysis of Duchenne and Biker muscular dystrophy patients in Quebec
4. Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence
5. Rescue of dystrophin expression in mdx mouse muscle by RNA/DNA oligonucleotides
6. In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA/DNA oligonucleotide
7. Aminoglycoside antibiotics restore dystrophin function to skeletal muscle of mdx mice
8. A case of Biker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation
9. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
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11. Protein truncation test (PTT) to rapidly screen the DMD-gene for translation-terminating mutations
12. Novel point mutations in the dystrophin gene
13. Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)
14. Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: From Southern blot to protein truncation test
15. Novel dystrophin mutations revealed by analysis of dysrtophin mRNA: Alternative splicing suppresses the phenotypic effect of a nonsense mutation
16. Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Biker muscular dystrophies
17. Amino-terminal deletion of 53% of dystrophin results in an intermediate Duchenne-Biker muscular dystrophy phenotype
18. A study on duplication of the dystrophin gene: Evidence of a geographical difference in the distribution of breakpoints by intron
19. Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model