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A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

✍ Scribed by Laing, Nigel G.; Wilton, Stephen D.; Akkari, Patrick A.; Dorosz, Shellie; Boundy, Karyn; Kneebone, Chris; Blumbergs, Peter; White, Sue; Watkins, Hugh; Love, Donald R.


Book ID
109914932
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
549 KB
Volume
9
Category
Article
ISSN
1061-4036

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Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder of skeletal muscle caused by mutations in at least five different genes encoding thin filament proteins of the striated muscle sarcomere. We have previously described 18 different mutations in the last 42 exons of the nebu