Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

Neuromuscular Disorders : NMD
C W OckeloenN van Alfen

Abstract

Nemaline myopathy and myofibrillar myopathy are heterogeneous myopathies that both comprise early-onset forms. We present two sisters from a consanguineous Iraqi Kurdish family with predominant axial and limb girdle weakness. Muscle biopsies showed features of both nemaline myopathy and myofibrillar myopathy. We performed homozygosity mapping in both siblings using an Affymetrix 250K Nspl SNP array. One of the overlapping homozygous regions harbored the gene CFL2. Because a mutation in CFL2 was identified in a family with nemaline myopathy, we performed sequence analysis of the gene and a novel homozygous missense mutation in exon 2 (c.19G>A, p.Val7Met) of CFL2 was identified in both siblings. CFL2 encodes the protein cofilin-2, which plays an important role in regulation of sarcomeric actin filaments. To our knowledge, this is the second family in which a mutation in CFL2 causes an autosomal recessive form of congenital myopathy with features of both nemaline and myofibrillar myopathy. Given the clinical variability and the multitude of histological features of congenital myopathies, CFL2 sequence analysis should be considered in patients presenting with an autosomal recessive form of congenital myopathy.

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Citations

Jan 10, 2013·Nature Reviews. Molecular Cell Biology·David S Gokhin, Velia M Fowler
Mar 13, 2014·Journal of Neurology, Neurosurgery, and Psychiatry·Royston W OngNigel G Laing
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Jan 25, 2014·Neuromuscular Disorders : NMD·Kathryn N NorthUNKNOWN International Standard of Care Committee for Congenital Myopathies
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Apr 19, 2018·Muscle & Nerve·Young-Eun ParkDae-Seong Kim
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May 3, 2014·Molecular Medicine Reports·Xi YinYan Ling Mao
Sep 14, 2020·Journal of Molecular and Cellular Cardiology·Thomas G Martin, Jonathan A Kirk

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