Document Detail


Limb girdle muscular dystrophy: reappraisal of a rejected entity.
MedLine Citation:
PMID:  7988088     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The term limb girdle muscular dystrophy (LGMD) has been introduced to delineate a distinct form of muscular dystrophy with predominantly proximal upper and lower extremity weakness. Families with evidence of both autosomal recessive and autosomal dominant modes of inheritance have been described. The recognition of other disorders presenting with weakness in a limb girdle distribution, such as the spinal muscular atrophies, dystrophinopathies, inflammatory and metabolic myopathies, casted doubt on the existence of LGMD as a separate entity. Recent linkage studies showing association between various forms of LGMD and loci on chromosome 15, 13 and 5 respectively, and the demonstration of 50K dystrophin associated glycoprotein deficiency in some cases of LGMD, strongly support the notion that limb girdle muscular dystrophy constitutes a separate group of phenotypically and genotypically distinct disorders. Further investigations are necessary to recognize the different subtypes of this disease and to identify the underlying mutations.
Authors:
A J van der Kooi; M de Visser; P G Barth
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Clinical neurology and neurosurgery     Volume:  96     ISSN:  0303-8467     ISO Abbreviation:  Clin Neurol Neurosurg     Publication Date:  1994 Aug 
Date Detail:
Created Date:  1995-01-09     Completed Date:  1995-01-09     Revised Date:  2009-10-14    
Medline Journal Info:
Nlm Unique ID:  7502039     Medline TA:  Clin Neurol Neurosurg     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  209-18     Citation Subset:  IM    
Affiliation:
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Adult
Arm / physiopathology
Chromosome Aberrations / genetics
Chromosome Disorders
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 5
Creatine Kinase / blood
Diagnosis, Differential
Dystrophin / deficiency
Genotype
Glycoproteins / deficiency
Humans
Leg / physiopathology
Male
Muscle, Skeletal / ultrastructure
Muscular Dystrophies / diagnosis*,  genetics*,  physiopathology
Phenotype
Chemical
Reg. No./Substance:
0/Dystrophin; 0/Glycoproteins; EC 2.7.3.2/Creatine Kinase

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


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