Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci
Details
Serval ID
serval:BIB_53C448963634
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci
Journal
Neuromuscular Disorders
ISSN
0960-8966 (Print)
Publication state
Published
Issued date
01/2007
Peer-reviewed
Oui
Volume
17
Number
1
Pages
6-12
Notes
Journal Article --- Old month value: Jan
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 childhood. Nemaline rods were seen in less than 5% of muscle fibres. No linkage to the five known nemaline myopathy genes (alpha-tropomyosin-3, nebulin, alpha-actin, troponin T1 and beta-tropomyosin), to the ryanodine receptor gene (associated with core-rod myopathy) or to the 15q21-23 locus was found.
Keywords
*Family Health Female Humans Male Muscle Weakness/etiology Muscle, Skeletal/pathology/ultrastructure *Myopathies, Nemaline/genetics/pathology/physiopathology *Pedigree Phenotype
Pubmed
Web of science
Create date
25/01/2008 12:43
Last modification date
20/08/2019 14:08