A new phenotype of autosomal dominant nemaline myopathy.
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.
Gommans
I M P
IM
Neuromuscular Centre Nijmegen, Institute of Neurology, University Medical Centre Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
van Engelen
B G M
BG
ter Laak
H J
HJ
Brunner
H G
HG
Kremer
H
H
Lammens
M
M
Vogels
O J M
OJ
D000328:Adult; D000368:Aged; D001706:Biopsy; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009069:Movement Disorders / Q000235:genetics / Q000473:pathology; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology; D009210:Myofibrils / Q000473:pathology / Q000648:ultrastructure; D017696:Myopathies, Nemaline / Q000235:genetics* / Q000473:pathology*; D009431:Neural Conduction; D010375:Pedigree; D010641:Phenotype; D014057:Tomography, X-Ray Computed