ISSN:1350-7540    

出版商:OVID    

年代:2000

数据来源: OVID

摘要:

Among 14 limb-girdle muscular dystrophy genes that have been mapped, 10 (three autosomal dominant and seven autosomal recessive) have so far had their product identified. This review will focus on the most recent data in the field and on our own experience of more than 200 patients studied with autosomal recessive-limb-girdle muscular dystrophy, classified from calpainopathy to telethoninopathy. Genotype : phenotype correlations in this highly heterogeneous group show a similar clinical course among patients with different forms, whereas a discordant phenotype may be seen in unrelated patients or in affected sibs carrying the same mutation. Understanding such similarities or differences remains a major challenge. It will depend on future knowledge of gene-protein functions, on protein interactions and on identifying modifying genes and other factors underlying clinical variability.

ISSN:1350-7540    

出版商:OVID    

年代:2000

数据来源: OVID

摘要:

This review demonstrates genetic and phenotypic heterogeneity in all of the multisystemic myotonic disorders collectively called ‘myotonic dystrophies’ according to the new nomenclature: myotonic dystrophy type 1, myotonic dystrophy type 2, proximal myotonic myopathy and proximal myotonic dystrophy. Only two loci have so far been assigned (19q 13.3 in myotonic dystrophy type 1, and 3q 21.3 in myotonic dystrophy type 2). Although the diagnosis of these disorders may be suspected clinically, it needs to be confirmed by DNA analysis.

ISSN:1350-7540    

出版商:OVID    

年代:2000

数据来源: OVID

摘要:

The rate of advance of our understanding of mitochondrial pathology continues to accelerate. Trends in genotype-phenotype correlations in mitochondrial DNA mutations continue to be developed; the latest of these is the association of exercise intolerance with cytochrome b mutations and onset in infancy of multisystem disorders associated with cytochrome oxidase assembly defects. New models for mitochondrial disease are being developed. Drugs, toxins and deficiency of nuclear encoded proteins that are targeted at mitochondria are now recognized as important causes of secondary mitochondrial respiratory chain deficiency.

ISSN:1350-7540    

出版商:OVID    

年代:2000

数据来源: OVID

摘要:

There is a growing body of evidence in favour of the presence of human diseases caused by mutations in genes that encode the nuclear envelope proteins emerin and lamin A/C (lamin A and C are alternatively spliced variants of the same gene). Emerin deficiency results in X-linked Emery-Dreifuss muscular dystrophy (EDMD). Lamin A/C mutations cause the autosomal-dominant form of EDMD, limb-girdle muscular dystrophy with atrioventricular conduction disturbances (type 1B), hypertrophic cardiomyopathy and Dunnigan-type familial partial lipodystrophy. In the targeted mouse model of lamin A gene deficiency, loss of lamin A/C is associated with mislocalization of emerin. Thus, one plausible pathomechanism for EDMD, limb-girdle muscular dystrophy type 1B, hypertrophic cardiomyopathy and familial partial lipodystrophy is the presence of specific abnormalities of the nuclear envelope. Therefore, a group of markedly heterogeneous disorders can be classified as ‘nuclear envelopathies’. The present review summarizes recent findings on nuclear envelope proteins and diseases.

ISSN:1350-7540    

出版商:OVID    

年代:2000

数据来源: OVID

摘要:

Two major entities continue to be controversial in the field of clinical myotoxicity: the various myopathies that are induced by the cholesterol-lowering agents and the acute quadriplegic myopathy of intensive care. Both conditions are relatively common, but their pathogenesis is unclear. The problematic issues related to these disorders are presented, with suggested topics for future research.

ISSN:1350-7540    

出版商:OVID    

年代:2000

数据来源: OVID

摘要:

Common impairments experienced by patients with myopathy include muscle weakness, reduced endurance and cardiovascular fitness. Strength-training programmes, incorporating isometric, isotonic or isokinetic exercise, have been shown to improve muscle strength in the short term, without evidence of increased muscle damage using biochemical markers. However, there is some evidence that eccentric exercise may have adverse effects in patients with myopathy. Aerobic training programmes using cycle ergometers or treadmills have demonstrated an improvement in cardiovascular fitness, muscle strength and endurance, again without evidence of increased muscle damage. Further research is needed to determine the optimum training protocols for patients with various types of myopathy, and in particular to improve the ability of patients to be active and independent in daily life.

ISSN:1350-7540    

出版商:OVID    

年代:2000

数据来源: OVID

摘要:

Gene therapy for inherited muscle disease is an active area of research and development. Initial emphasis has been on gene replacement but alternative approaches are increasingly being considered in order to overcome difficulties, such as the immune rejection of transduced cells, the need for appropriate and tissue-specific control of expression, and the requirement for systemic spread in some conditions. However, the most significant obstacles to the clinical success of gene therapy are still the lack of efficiency and accuracy of gene medicine delivery.

ISSN:1350-7540    

出版商:OVID    

年代:2000

数据来源: OVID

ISSN:1350-7540    

出版商:OVID    

年代:2000

数据来源: OVID

摘要:

Recent years have witnessed considerable advances in the nosography and molecular genetics of the hereditary motor and sensory neuropathies of autosomal dominant and X-linked recessive inheritance. Those with autosomal recessive inheritance are in general much less common, although in some communities where consanguineous marriages are prevalent they represent the most frequently encountered forms. They are now beginning to be characterized both clinically and genetically.

ISSN:1350-7540    

出版商:OVID    

年代:2000

数据来源: OVID