A new phenotype of autosomal dominant nemaline myopathy
IMP Gommans, BGM Van Engelen, HJ Ter Laak… - Neuromuscular …, 2002 - Elsevier
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 respiratoy muscles were normal. The most remarkable clinical
feature was a peculiar kind of slowness in movement not reported previously in nemaline …
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 respiratoy muscles were normal. The most remarkable clinical
feature was a peculiar kind of slowness in movement not reported previously in nemaline …