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.