Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene

A. D'Amico, S. Benedetti, S. Petrini, N. Sambuughin, R. Boldrini, I. Menditto, M. Ferrari, M. Verardo, L. Goldfarb, E. Bertini

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in the lamin A/C gene (LMNA) have been associated with neuromuscular diseases and more complex syndromes, involving bone and adipose tissue. We report on a case of early onset myopathy due to a heterozygous LMNA mutation in exon 9, characterized by the presence of a marked number of cytoplasmic bodies with extensive myofibrillar abnormalities and Z-disk disruption in skeletal muscle. This case suggests there is a need to increase the list of genes to be screened in patients with myofibrillar myopathy.

Original languageEnglish
Pages (from-to)847-850
Number of pages4
JournalNeuromuscular Disorders
Volume15
Issue number12
DOIs
Publication statusPublished - Dec 2005

Keywords

  • Desmin
  • Lamin A/C
  • Myofibrillar myopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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