X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1
Open Access
- 1 January 2008
- journal article
- other
- Published by Elsevier in American Journal of Human Genetics
- Vol. 82 (1) , 208-213
- https://doi.org/10.1016/j.ajhg.2007.09.013
Abstract
No abstract availableKeywords
This publication has 27 references indexed in Scilit:
- Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350PBrain, 2007
- Four and a Half LIM Protein 1 Binds Myosin-binding Protein C and Regulates Myosin Filament Formation and Sarcomere AssemblyPublished by Elsevier ,2006
- The LIM domain: from the cytoskeleton to the nucleusNature Reviews Molecular Cell Biology, 2004
- Protein degradation and protection against misfolded or damaged proteinsNature, 2003
- Characterization of tissue‐specific LIM domain protein (FHL1C) which is an alternatively spliced isoform of a human LIM‐only protein (FHL1)Journal of Cellular Biochemistry, 2001
- The LIM Proteins FHL1 and FHL3 Are Expressed Differently in Skeletal MuscleBiochemical and Biophysical Research Communications, 1999
- Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31Human Molecular Genetics, 1996
- Slim Defines a Novel Family of LIM-Proteins Expressed in Skeletal MuscleBiochemical and Biophysical Research Communications, 1996
- Chromosome 12‐linked autosomal dominant scapuloperoneal muscular dystrophyAnnals of Neurology, 1996
- SCAPULOPERONEAL MUSCULAR ATROPHYBrain, 1965