Researchers have shown that mutations in a gene on chromosome 15 called KBTBD13 cause a particular form of nemaline myopathy
posted on December 8, 2010 - 2:30pm
A research group has identified specific mutations in a gene on chromosome 15 called KBTBD13 that cause a type of nemaline myopathy (NM), a disease in which thread- or rod-like ("nemaline") material forms clumps in affected muscle.
The newly identified mutations cause type 6 NM. A number of mutations in genes associated with other subtypes of the disease already have been identified.