Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online.
In this study we have carried out a mutational screening of exons 62-79 of the dystrophin gene by SSCP in 38 Italian patients with DMD/BMD and found two novel mutations at exon 70, in 2 mentally retarded DMD patients.
Cau
M
M
Istituto di Clinica E Biologia dell'Eta' Evolutuva, Universitá degli studi di Cagliari.
Cao
A
A
Loi
D
D
Puddu
A
A
Muntoni
F
F
Mateddu
A
A
Melis
M A
MA
D016189:Dystrophin / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007558:Italy; D009154:Mutation / Q000235:genetics*; D010455:Peptides / Q000235:genetics*
D016189:Dystrophin; D010455:Peptides