Original paper
Autosomal dominant nemaline myopathy: A new phenotype unlinked to previously known genetic loci
Abstract
We report a large family with a mild form of autosomal dominant nemaline myopathy and a new phenotype. Onset of symptoms was in infancy with hypotonia and motor delay. Weakness involved neck flexors, abdominal and proximal limb muscles. There was no bulbar, respiratory or foot dorsiflexion weakness and no slowness in movement. Patients had remarkably good physical endurance and no limitation in daily activities, but were slow runners since...
Paper Details
Title
Autosomal dominant nemaline myopathy: A new phenotype unlinked to previously known genetic loci
Published Date
Jan 1, 2007
Journal
Volume
17
Issue
1
Pages
6 - 12
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Notes
History