Article
A new phenotype of autosomal dominant nemaline myopathy.
Neuromuscular disorders : NMD - 1 Jan 2002
Gommans I M P, van Engelen B G M, ter Laak H J, Brunner H G, Kremer H, Lammens M, Vogels O J M
Abstract excerpt
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...
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