Cap disease due to mutation of the beta-tropomyosin gene (TPM2)
NF Clarke, A Domazetovska, L Waddell… - Neuromuscular …, 2009 - Elsevier
Cap disease or cap myopathy is a form of congenital myopathy in which peripheral, well-
demarcated 'caps' of disorganised thin filaments are seen in muscle fibres. Mutation of the
TPM2 gene, that encodes beta-tropomyosin, is the first reported genetic cause. In this paper,
we describe a further case of cap disease due to a mutation in TPM2, confirming the
importance of this genetic association. This is the first report of cardiac dysfunction due to a
mutation in TPM2. Our patient has an identical TPM2 mutation to the first genetically …
demarcated 'caps' of disorganised thin filaments are seen in muscle fibres. Mutation of the
TPM2 gene, that encodes beta-tropomyosin, is the first reported genetic cause. In this paper,
we describe a further case of cap disease due to a mutation in TPM2, confirming the
importance of this genetic association. This is the first report of cardiac dysfunction due to a
mutation in TPM2. Our patient has an identical TPM2 mutation to the first genetically …