Lamin A/C

A protein found in the inner membrane surrounding a cell’s nucleus. A lack of lamin A/C is associated with Emery-Dreifuss muscular dystrophy 2, Limb Girdle muscular dystrophy type 1B, Charcot-Marie Tooth disease type II and four other disorders not related to muscular dystrophy.


Limb girdle muscular dystrophy

A group of conditions affecting the limb girdle muscles, (i.e. the muscles around the shoulders and hips) which present with different clinical symptoms and are caused by mutations in different genes.

Linkage studies

Tests carried out on various family members to establish how a particular piece of genetic information ‘runs through’ a family. They can sometimes be used to predict if an individual has inherited a faulty gene.