Matches in SemOpenAlex for { <https://semopenalex.org/work/W1554765910> ?p ?o ?g. }
- W1554765910 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 or proximal muscle groups; and severity covering the full spectrum from mild muscle weakness to premature lethality. Several myopathies were identified with symptoms within this broad spectrum and the recognition of a common pathology allowed the grouping of these diseases under a single term, MFM [1]. Problems in the classification of these disorders still exist, partially due to the wide spectrum of clinical presentation and the lack of detailed analysis of biopsy samples to identify the defining features of MFM." @default.
- W1554765910 created "2016-06-24" @default.
- W1554765910 creator A5003672029 @default.
- W1554765910 creator A5027878506 @default.
- W1554765910 creator A5086220693 @default.
- W1554765910 date "2012-08-22" @default.
- W1554765910 modified "2023-09-30" @default.
- W1554765910 title "Myofibrillar Myopathies and the Z-Disk Associated Proteins" @default.
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