Congenital myopathies (Journal Article)

Research output: Contribution to journalReview article

25 Citations (Scopus)

Abstract

Purpose of reviewThe aim of this review is to provide an up-to-date personal analysis of current congenital myopathy research.Recent findingsIn the past year novel congenital myopathies have been suggested, genes have been discovered for some of the congenital myopathies for the first time (P-tropomyosin in cap disease and perhaps skeletal muscle a-actin in Zebra body myopathy), further genes have been identified for congenital myopathies where other genes had already been found (cofilin in nemaline myopathy, selenoprotein N in congenital fibre type disproportion) and recessive myosin storage myopathy was associated with homozygous mutation of slow-skeletal/beta-cardiac myosin which was already known to be mutated in dominant myosin storage myopathy. There has been further clarification of the pathobiology of the congenital myopathies, including determination of the basis of epigenetic effects: silencing of the normal allele in recessive central core disease and persistence of cardiac (fetal) a-actin in nemaline myopathy patients with no skeletal actin.SummaryThe increased understanding of the genes and pathobiology of the congenital myopathies that is developing should ultimately lead to effective treatments.
Original languageEnglish
Pages (from-to)583-589
JournalCurrent Opinion in Neurology
Volume20
DOIs
Publication statusPublished - 2007

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