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

M Cau; A Cao; D Loi; A Puddu; F Muntoni; A Mateddu; M A Melis

doi:10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU13>3.0.CO;2-G

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

Hum Mutat. 1998;12(1):70. doi: 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU13>3.0.CO;2-G.

Authors

M Cau¹, A Cao, D Loi, A Puddu, F Muntoni, A Mateddu, M A Melis

Affiliation

¹ Istituto di Clinica E Biologia dell'Eta' Evolutuva, Universitá degli studi di Cagliari.

PMID: 10627134
DOI: 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU13>3.0.CO;2-G

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Dystrophin / genetics*
Genetic Predisposition to Disease
Genetic Testing
Humans
Intellectual Disability / genetics*
Italy
Mutation / genetics*
Peptides / genetics*

Substances

Dystrophin
Peptides