Myotilinopathy in a family with late onset myopathy

Isabelle Penisson-Besnier, Kati Talvinen, Catherine Dumez, Anna Vihola, Frederic Dubas, Michel Gardeau, Peter Hackman, Olli Carpen, Bjarne Udd

Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

Abstrakti

Mutations in titin are well known cause of late onset autosomal dominant distal myopathy. Mutations in another sarcomeric protein, myotilin, were first identified in two families with dominant limb girdle muscular phenotype. Recently, however, myotilin mutations have been associated with more distal phenotypes in patients with late onset myofibrillar myopathy. We report here a multigenerational French family in which gene sequencing identified a S60F myotilin mutation in all patients with full penetrance despite very late onset. The family was originally reported as a distal myopathy but intrafamilial variability was remarkable with proximal or distal muscle weakness or both. Extended morphological characteristics of muscle biopsy findings in myotilinopathy indicate that immunohistochemistry may be important for selection of molecular genetic approach in myofibrillar myopathy. (C) 2006 Elsevier B.V. All rights reserved.
Alkuperäiskielienglanti
LehtiNeuromuscular Disorders
Vuosikerta16
Numero7
Sivut427-431
Sivumäärä5
ISSN0960-8966
DOI - pysyväislinkit
TilaJulkaistu - 2006
OKM-julkaisutyyppiA1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

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