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. 2002 Jan;12(1):13-8.
doi: 10.1016/s0960-8966(01)00231-0.

A new phenotype of autosomal dominant nemaline myopathy

I M P Gommans  1 , B G M van Engelen, H J ter Laak, H G Brunner, H Kremer, M Lammens, O J M Vogels
Affiliations

A new phenotype of autosomal dominant nemaline myopathy

I M P Gommans et al. Neuromuscul Disord. 2002 Jan.

Abstract

We present a five-generation family with a novel phenotype of autosomal dominant nemaline myopathy not linked to the three genes known to be causative for nemaline myopathy (alpha-tropomyosin-3, nebulin, and alpha-actin). Although there was muscle weakness in the neck flexors and proximal muscles of the limbs, as found in other families, facial, ankle dorsiflexor and respiratory muscles were normal. The most remarkable clinical feature was a peculiar kind of slowness in movement not reported previously in nemaline myopathy.

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