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Article

Actin mutations are one cause of congenital fibre type disproportion

4 Oct 2004

Abstract excerpt

We report three heterozygous missense mutations of the skeletal muscle alpha actin gene (ACTA1) in three unrelated cases of congenital fiber type disproportion (CFTD) from Japan and Australia. This represents the first genetic cause of CFTD to be identified and confirms that CFTD is genetically heterogeneous. The three mutations we have identified Leucine221Proline, Aspartate292Valine, and Proline332Serine are...

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PMID: 15468086
DOI: 10.1002/ana.20260

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