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Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.
- Source :
-
Neuromuscular disorders : NMD [Neuromuscul Disord] 2006 Jun; Vol. 16 (6), pp. 357-60. Date of Electronic Publication: 2006 May 08. - Publication Year :
- 2006
-
Abstract
- Myosin storage myopathy (OMIM 608358), a congenital myopathy characterised by subsarcolemmal, hyaline-like accumulations of myosin in Type I muscle fibres, was first described by Cancilla and Colleagues in 1971 [Neurology 1971;21:579-585] in two siblings as 'familial myopathy with probable lysis of myofibrils in type I muscle fibres'. Two mutations in the slow skeletal myosin heavy chain gene (MYH7) have recently been associated with the disease in other families. We have identified a novel heterozygous Leu1793Pro mutation in MYH7 in DNA from paraffin sections of one of the original siblings. This historical molecular analysis confirms the original cases had myosin storage myopathy.
- Subjects :
- Child, Preschool
DNA genetics
Exons genetics
Female
Heterozygote
Humans
Male
Muscle Fibers, Slow-Twitch metabolism
Muscle Fibers, Slow-Twitch pathology
Muscular Diseases pathology
Myofibrils pathology
Cardiac Myosins genetics
Muscular Diseases congenital
Muscular Diseases genetics
Mutation genetics
Myosin Heavy Chains genetics
Myosins metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 0960-8966
- Volume :
- 16
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Neuromuscular disorders : NMD
- Publication Type :
- Academic Journal
- Accession number :
- 16684601
- Full Text :
- https://doi.org/10.1016/j.nmd.2006.03.011