Mutations in the β-tropomyosin (TPM2) gene–a rare cause of nemaline myopathy

K Donner, M Ollikainen, M Ridanpää, HJ Christen… - Neuromuscular …, 2002 - Elsevier
Nemaline myopathy is a clinically and genetically heterogeneous muscle disorder. In the
nebulin gene we have detected a number of autosomal recessive mutations. Both
autosomal dominant and recessive mutations have been detected in the genes for α-actin
and α-tropomyosin 3. A recessive mutation causing nemaline myopathy among the Old
Order Amish has recently been identified in the gene for slow skeletal muscle troponin T. As
linkage studies had shown that at least one further gene exists for nemaline myopathy, we …