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Myopathies associated with beta-tropomyosin mutations

Tajsharghi, H.; Ohlsson, M.; Palm, Lars LU and Oldfors, A. (2012) In Neuromuscular Disorders 22(11). p.923-933
Abstract
Mutations in TPM2, encoding beta-tropomyosin, have recently been found to cause a range of muscle disorders. We review the clinical and morphological expression of the previously reported mutations illustrating the heterogeneity of beta-tropomyosin-associated diseases and describe an additional case with a novel mutation. The manifestations of mutations in TPM2 include non-specific congenital myopathy with type 1 fibre predominance, nemaline myopathy, cap disease and distal arthrogryposis. In addition, Escobar syndrome with nemaline myopathy is a manifestation of homozygous truncating beta-tropomyosin mutation. Cap disease appears to be the most common morphological manifestation. A coarse intermyofibrillar network and jagged Z line:; are... (More)
Mutations in TPM2, encoding beta-tropomyosin, have recently been found to cause a range of muscle disorders. We review the clinical and morphological expression of the previously reported mutations illustrating the heterogeneity of beta-tropomyosin-associated diseases and describe an additional case with a novel mutation. The manifestations of mutations in TPM2 include non-specific congenital myopathy with type 1 fibre predominance, nemaline myopathy, cap disease and distal arthrogryposis. In addition, Escobar syndrome with nemaline myopathy is a manifestation of homozygous truncating beta-tropomyosin mutation. Cap disease appears to be the most common morphological manifestation. A coarse intermyofibrillar network and jagged Z line:; are additional frequent changes. The dominant beta-tropomyosin mutations manifest either as congenital myopathy or distal arthrogryposis. The various congenital myopathies are usually associated with moderate muscle weakness and no congenital joint contractures. The distal arthrogryposis syndromes associated with TPM2 mutations include the less severe forms, with congenital contractures mainly of the hands and feet and mild or no muscle weakness. The dominant TPM2 mutations include amino acid deletions/insertions and missense mutations. There is no clear relation between the type of mutations or the localisation of the mutated residue in the beta-tropomyosin molecule and the clinical and morphological phenotype. (C) 2012 Elsevier B.V. All rights reserved. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Distal arthrogryposis, Congenital, Cap disease, Nemaline myopathy, Tropomyosin, Myopathy, Escobar syndrome
in
Neuromuscular Disorders
volume
22
issue
11
pages
923 - 933
publisher
Elsevier
external identifiers
  • wos:000311816100001
  • scopus:84868143915
ISSN
0960-8966
DOI
10.1016/j.nmd.2012.05.018
language
English
LU publication?
yes
id
8a0e0908-b6eb-410b-9460-ac31dcc842a9 (old id 3373261)
date added to LUP
2013-02-01 07:01:46
date last changed
2017-07-09 03:18:59
@article{8a0e0908-b6eb-410b-9460-ac31dcc842a9,
  abstract     = {Mutations in TPM2, encoding beta-tropomyosin, have recently been found to cause a range of muscle disorders. We review the clinical and morphological expression of the previously reported mutations illustrating the heterogeneity of beta-tropomyosin-associated diseases and describe an additional case with a novel mutation. The manifestations of mutations in TPM2 include non-specific congenital myopathy with type 1 fibre predominance, nemaline myopathy, cap disease and distal arthrogryposis. In addition, Escobar syndrome with nemaline myopathy is a manifestation of homozygous truncating beta-tropomyosin mutation. Cap disease appears to be the most common morphological manifestation. A coarse intermyofibrillar network and jagged Z line:; are additional frequent changes. The dominant beta-tropomyosin mutations manifest either as congenital myopathy or distal arthrogryposis. The various congenital myopathies are usually associated with moderate muscle weakness and no congenital joint contractures. The distal arthrogryposis syndromes associated with TPM2 mutations include the less severe forms, with congenital contractures mainly of the hands and feet and mild or no muscle weakness. The dominant TPM2 mutations include amino acid deletions/insertions and missense mutations. There is no clear relation between the type of mutations or the localisation of the mutated residue in the beta-tropomyosin molecule and the clinical and morphological phenotype. (C) 2012 Elsevier B.V. All rights reserved.},
  author       = {Tajsharghi, H. and Ohlsson, M. and Palm, Lars and Oldfors, A.},
  issn         = {0960-8966},
  keyword      = {Distal arthrogryposis,Congenital,Cap disease,Nemaline myopathy,Tropomyosin,Myopathy,Escobar syndrome},
  language     = {eng},
  number       = {11},
  pages        = {923--933},
  publisher    = {Elsevier},
  series       = {Neuromuscular Disorders},
  title        = {Myopathies associated with beta-tropomyosin mutations},
  url          = {http://dx.doi.org/10.1016/j.nmd.2012.05.018},
  volume       = {22},
  year         = {2012},
}