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Mutations in TPM2 and congenital fibre type disproportion

โœ Scribed by Clarke, Nigel F.; Waddell, Leigh B.; Sie, Lilian T.L.; van Bon, Bregje W.M.; McLean, Catriona; Clark, Damian; Kornberg, Andrew; Lammens, Martin; North, Kathryn N.


Book ID
119333633
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
343 KB
Volume
22
Category
Article
ISSN
0960-8966

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Mutations of tropomyosin 3 (TPM3) are co
โœ Michael W. Lawlor; Elizabeth T. DeChene; Emily Roumm; Amelia S. Geggel; Behzad M ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 369 KB

Congenital fiber type disproportion (CFTD) is a rare congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence of type 1 fiber hypotrophy of at least 12% in the absence of other notable pathological findings. Mutations of th