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

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...

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Main Authors: Ockeloen, C.W., Gilhuis, H.J., Pfundt, R., Kamsteeg, E.J., Agrawal, P.B., Beggs, A.H., Hama-Amin, A. Dara, Diekstra, A., Knoers, N.V.A.M., Lammens, M., van Alfen, N.
Format: Artigo
Sprog:Inglês
Udgivet: 2012
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3377783/
https://ncbi.nlm.nih.gov/pubmed/22560515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2012.03.008
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