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Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy

7 Mar 2014

Abstract excerpt

Nemaline myopathy is one of the major subtypes of congenital myopathy and is known to be caused by mutations in nine genes including cofilin-2 ( CFL2 ).1 Typical nemaline myopathy presentations include proximal weakness, hypotonia, respiratory difficulties and facial weakness.1 This study was approved by The University of Western Australia Human Research Ethics Committee with written consent from...

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PMID: 24610938
DOI: 10.1136/jnnp-2014-307608

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