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.

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