Neuromuscular diseases

Ullrich Congenital Muscular Dystrophy

Ullrich congenital muscular dystrophy is caused by a mutation in one of the genes which codes for the protein collagen VI. It is not X-linked so it affects boys and girls. It is usually a recessive condition which means that the mutated gene is inherited from both parents. Those with just one copy are carriers. Sometimes, the condition is not inherited but occurs because of a spontaneous mutation.

Further information can be found on the Muscular Dystrophy Campaign website.


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