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Myopathies associated with beta-tropomyosin mutations

Forskningsöversiktsartikel
Författare Homa Tajsharghi
Monica Ohlsson
L. Palm
Anders Oldfors
Publicerad i Neuromuscular Disorders
Volym 22
Nummer/häfte 11
Sidor 923-933
ISSN 0960-8966
Publiceringsår 2012
Publicerad vid Institutionen för biomedicin, avdelningen för patologi
Sidor 923-933
Språk en
Länkar dx.doi.org/10.1016/j.nmd.2012.05.01...
Ämnesord Tropomyosin, Myopathy, Nemaline myopathy, Cap disease, Congenital myopathy, Distal, recessive nemaline myopathy, alpha-actin gene, familial hypertrophic, cardiomyopathy, cause distal arthrogryposis, skeletal-muscle actin, nebulin gene, cap disease, congenital myopathy, binding-protein, tpm2
Ämneskategorier Klinisk medicin

Sammanfattning

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.

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