RGD Reference Report - Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. - Rat Genome Database

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Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.

Authors: Malhotra, SB  Hart, KA  Klamut, HJ  Thomas, NS  Bodrug, SE  Burghes, AH  Bobrow, M  Harper, PS  Thompson, MW  Ray, PN 
Citation: Malhotra SB, etal., Science. 1988 Nov 4;242(4879):755-9.
RGD ID: 1580859
Pubmed: PMID:3055295   (View Abstract at PubMed)

Duchenne muscular dystrophy (DMD) and its less severe form Becker muscular dystrophy (BMD) are allelic disorders. It has been suggested that in the mutations involving BMD, the translational reading frame of messenger RNA is maintained and a smaller, though partially functional, protein is produced. In order to test this, the exon-intron boundaries of the first ten exons of the DMD gene were determined, and 29 patients were analyzed. In a number of BMD patients (mild and severe BMD), the reading frame of messenger RNA was not maintained. On the basis of these findings, a model for reinitiation from an internal start codon is suggested.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Duchenne muscular dystrophy  IAGP 1580859 RGD 
Duchenne muscular dystrophy  ISODMD (Homo sapiens)1580859; 1580859 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Dmd  (dystrophin)

Genes (Mus musculus)
Dmd  (dystrophin, muscular dystrophy)

Genes (Homo sapiens)
DMD  (dystrophin)


Additional Information