Document Detail

Congenital myopathies and congenital muscular dystrophies.
MedLine Citation:
PMID:  11562568     Owner:  NLM     Status:  MEDLINE    
Congenital myopathies and congenital myopathic dystrophies are distinct groups of inherited diseases of muscle, genetically heterogeneous, that manifest in early life or infancy. Congenital myopathic dystrophy is characterized by a dystrophic pattern, whereas no necrotic or degenerative changes are present in congenital myopathies. Much progress has been made in recent years in clarifying the classification of the congenital myopathies. This is a clinically and genetically heterogeneous group of conditions originally classified according to unique morphological changes seen in muscle. Not unlike the later-onset muscular dystrophies, the discovery of the genetic aetiology of many of the congenital myopathies has led to a revamping of how these conditions can now be diagnosed and this should enable physicians to give a more accurate prognosis to patients and their families. New mutations in the ryanodine receptor, slow tropomyosin, troponin T1, actin, and nebulin genes have been described in the last 2 years. Clinical and genetic guidelines for conditions like nemaline rod myopathy and central core disease have been suggested. The notion of minus and surplus protein myopathies has been developed. Several groups of congenital myopathic dystrophy have been identified. In the first category, without intellectual impairment or major structural brain abnormalities, half of the cases are merosin deficient due to mutations of the laminin alpha 2 chain gene. If generally the muscular phenotype is severe, mild allelic variants have been reported with early onset dystrophies and partial merosin deficiency. Among other pure congenital myopathic dystrophies unlinked to the laminin alpha 2 gene, one form has been assigned to chromosome 1q42. In the group of congenital myopathic dystrophies associated with mental retardation and structural brain abnormalities, two main entities are genetically characterized: (1) Fukuyama congenital myopathic dystrophy, affecting the Japanese population, is due to fukutin gene mutations, and (2) the muscle eye brain syndrome assigned to chromosome 1p32-34. In several cases, the gene localization remains unknown.
N Tubridy; B Fontaine; B Eymard
Related Documents :
17143888 - Tandem duplication of dmd exon 18 associated with epilepsy, macroglossia, and endocrino...
8569778 - Molecular characterization of further dystrophin gene microsatellites.
1445778 - The human genome project and clinical medicine.
8373638 - (ctg)n triplet mutation and phenotype manifestations in myotonic dystrophy patients.
18182448 - Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholest...
15017588 - Loss of heterozygosity analysis shows monoclonal evolution with frequent genetic progre...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Current opinion in neurology     Volume:  14     ISSN:  1350-7540     ISO Abbreviation:  Curr. Opin. Neurol.     Publication Date:  2001 Oct 
Date Detail:
Created Date:  2001-09-19     Completed Date:  2001-12-04     Revised Date:  2013-01-18    
Medline Journal Info:
Nlm Unique ID:  9319162     Medline TA:  Curr Opin Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  575-82     Citation Subset:  IM    
Fédération de Neurologie, Institute of Myology and Inserm, La Pitié Salpêtrière, Paris, France.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Muscular Dystrophies / congenital*,  genetics*,  pathology
Myopathies, Nemaline / genetics*,  pathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopath...
Next Document:  Myasthenia gravis: diagnostic and management dilemmas.