Abstract
The congenital muscular dystrophies comprise a genetically and clinically heterogeneous group of disorders characterized by early onset of progressive muscle weakness and often involvement of other organ systems such as the brain and eyes. During the last decade, significant progress has been made to further characterize various forms of congenital muscular dystrophies based on their specific genetic and clinical appearance. This review represents an overview of the recent accomplishments as they relate to clinical, diagnostic, pathogenetic and therapeutic aspects of congenital muscular dystrophies.
Original language | English (US) |
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Pages (from-to) | 159-172 |
Number of pages | 14 |
Journal | Biochimica et Biophysica Acta - Molecular Basis of Disease |
Volume | 1772 |
Issue number | 2 |
DOIs | |
State | Published - Feb 2007 |
Externally published | Yes |
Keywords
- Dystroglycan
- Integrins
- Laminin-α2
- Muscular dystrophy
- Selenoprotein N
ASJC Scopus subject areas
- Molecular Medicine
- Molecular Biology