 |
|
The Congenital and Limb-Girdle Muscular Dystrophies
Sharpening the Focus, Blurring the Boundaries
Janbernd Kirschner, MD;
Carsten G. Bönnemann, MD
Arch Neurol. 2004;61:189-199.
During the past decade, outstanding progress in the areas of congenital and limb-girdle muscular dystrophies has led to staggering clinical and genetic complexity. With the identification of an increasing number of genetic defects, individual entities have come into sharper focus and new pathogenic mechanisms for muscular dystrophies, like defects of posttranslational O-linked glycosylation, have been discovered. At the same time, this progress blurs the traditional boundaries between the categories of congenital and limb-girdle muscular dystrophies, as well as between limb-girdle muscular dystrophies and other clinical entities, as mutations in genes such as fukutin-related protein, dysferlin, caveolin-3 and lamin A/C can cause a striking variety of phenotypes. We reviewed the different groups of proteins currently recognized as being involved in congenital and limb-girdle muscular dystrophies, associated them with the clinical phenotypes, and determined some clinical and molecular clues that are helpful in the diagnostic approach to these patients.
From the Division of Neurology, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia.
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Cardiac involvement in muscular dystrophies
Beynon and Ray
QJM 2008;101:337-344.
ABSTRACT
| FULL TEXT
A refined diagnostic algorithm for Bethlem myopathy
Hicks et al.
Neurology 2008;70:1192-1199.
ABSTRACT
| FULL TEXT
Case 35-2006 -- A Newborn Boy with Hypotonia
Brown et al.
NEJM 2006;355:2132-2142.
FULL TEXT
Age-Related Dystrophin-Glycoprotein Complex Structure and Function in the Rat Extensor Digitorum Longus and Soleus Muscle
Rice et al.
J. Gerontol. A Biol. Sci. Med. Sci. 2006;61:1119-1129.
ABSTRACT
| FULL TEXT
|
