Mutations in TPM2 and congenital fibre type disproportion
NF Clarke, LB Waddell, LTL Sie, BWM van Bon… - Neuromuscular …, 2012 - Elsevier
The main diagnostic feature of congenital fibre type disproportion is that type 1 fibres are
consistently smaller than type 2 fibres in the absence of other histological abnormalities.
Mutations in the TPM3, RYR1 and ACTA1 genes are the most common established genetic
causes. There has been one previous report of congenital fibre type disproportion due to a
mutation in TPM2, although some atypical histological features were present. We present
two cases in which novel de novo missense mutations in TPM2 are associated with marked …
consistently smaller than type 2 fibres in the absence of other histological abnormalities.
Mutations in the TPM3, RYR1 and ACTA1 genes are the most common established genetic
causes. There has been one previous report of congenital fibre type disproportion due to a
mutation in TPM2, although some atypical histological features were present. We present
two cases in which novel de novo missense mutations in TPM2 are associated with marked …