ITEM METADATA RECORD
Title: Novel TPM3 mutation in a family with cap myopathy and review of the literature
Authors: Schreckenbach, T
Schröder, J M
Voit, T
Abicht, A
Neuen-Jacob, E
Roos, A
Bulst, S
Kuhl, C
Schulz, J B
Weis, J
Claeys, Kristl # ×
Issue Date: Feb-2014
Publisher: Pergamon Press
Series Title: Neuromuscular Disorders vol:24 issue:2
Article number: 10.1016/j.nmd.2013.10.002
Abstract: Cap myopathy is a rare congenital myopathy characterized by the presence of caps within muscle fibres and caused by mutations in ACTA1, TPM2 or TPM3. Thus far, only three cases with TPM3-related cap myopathy have been described. Here, we report on the first autosomal dominant family with cap myopathy in three-generations, caused by a novel heterozygous mutation in the alpha-tropomyosin-slow-encoding gene (TPM3; exon 4; c.445C>A; p.Leu149Ile). The three patients experienced first symptoms of muscle weakness in childhood and followed a slowly progressive course. They presented generalized hypotrophy and mild muscle weakness, elongated face, high arched palate, micrognathia, scoliosis and respiratory involvement. Intrafamilial variability of skeletal deformities, respiratory involvement and mild cardiac abnormalities was noted. Muscle MRI revealed a recognizable pattern of fatty muscle infiltration and masseter muscle hypertrophy. Subsarcolemmal caps were present in 6-10% of the fibres and immunoreactive with anti-tropomyosin antibodies. We conclude that the MRI-pattern of muscle involvement and the presence of masseter muscle hypertrophy in cap myopathy may guide molecular genetic diagnosis towards a mutation in TPM3. Regular respiratory examinations are important, even if patients have no anamnestic clues. We compare our findings to all cases of cap myopathy with identified mutations (n=11), thus far reported in the literature.
URI: 
ISSN: 0960-8966
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Faculty of Medicine - miscellaneous
× corresponding author
# (joint) last author

Files in This Item:
File Description Status SizeFormat
Schreckenbach et al Neuromuscul Dis 2014.pdf Published 1495KbAdobe PDFView/Open Request a copy

These files are only available to some KU Leuven Association staff members

 




All items in Lirias are protected by copyright, with all rights reserved.

© Web of science