Myofibrillar myopathies and the Z-disk associated proteins

Research output: Chapter in Book/Report/Conference proceedingChapter (Book)Other

Abstract

Myofibrillar myopathies (MFMs) are typically autosomal dominant myopathies with late onset progressive muscle weakness and symptoms initially evident in the distal muscle groups. However, there is a significant variability in the presentation of these diseases, with the age of onset ranging from infantile to late seventies; the involvement of the heart, respiratory muscles, distal and proximal muscle groups; and severity covering the full spectrum from mild muscle weakness to premature lethality.
Original languageEnglish
Title of host publicationSkeletal Muscle-From Myogenesis to Clinical Relations
EditorsJulianna Cseri
Place of PublicationCroatia
PublisherIn-Tech
Pages317 - 358
Number of pages42
Edition1
ISBN (Print)9789535107125
Publication statusPublished - 2012

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