Congenital muscular dystrophy: molecular and cellular aspects

The congenital muscular dystrophies are a clinically and genetically heterogeneous group of neuromuscular disorders. Each form has a characteristic phenotype, but there is overlap between some entities and their classification is based on a combination of clinical features and the primary or seconda...

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Bibliographic Details
Published in:Cellular and molecular life sciences : CMLS 2005-04, Vol.62 (7-8), p.809-823
Main Authors: Jimenez-Mallebrera, C, Brown, S C, Sewry, C A, Muntoni, F
Format: Article
Language:English
Subjects:
Antigens, CD - metabolism
Cellular biology
Collagen
Dystroglycans - metabolism
Dystrophy
Humans
Integrin alpha Chains - metabolism
Laminin - metabolism
Molecular biology
Muscle, Skeletal - metabolism
Muscle, Skeletal - physiopathology
Muscular Dystrophies - congenital
Muscular Dystrophies - genetics
Muscular Dystrophies - metabolism
Muscular Dystrophies - physiopathology
Muscular dystrophy
Protein Processing, Post-Translational
Proteins
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Summary:The congenital muscular dystrophies are a clinically and genetically heterogeneous group of neuromuscular disorders. Each form has a characteristic phenotype, but there is overlap between some entities and their classification is based on a combination of clinical features and the primary or secondary protein defect. Recent studies have identified the genetic basis of a number of congenital muscular dystrophies (11 genes in total) and have recognised a novel pathological mechanism that highlights the importance of the correct posttranslational processing of proteins, in particular alpha-dystroglycan. Diagnosis of these conditions has been aided by the availability of specific antibodies for each protein and a better understanding of the protein changes that accompany each condition. In this review we present the major molecular, clinical and diagnostic aspects of each group of congenital muscular dystrophy with an emphasis in the more recent developments.
ISSN:1420-682X
1420-9071
DOI:10.1007/s00018-004-4510-4