Ontology highlight
ABSTRACT:
SUBMITTER: Ockeloen CW
PROVIDER: S-EPMC3377783 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Ockeloen C W CW Gilhuis H J HJ Pfundt R R Kamsteeg E J EJ Agrawal P B PB Beggs A H AH Dara Hama-Amin A A Diekstra A A Knoers N V A M NV Lammens M M van Alfen N N
Neuromuscular disorders : NMD 20120504 7
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 ...[more]