Document Detail


Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31.
MedLine Citation:
PMID:  9673987     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A genome scan with highly polymorphic markers has established linkage for tibial muscular dystrophy (TMD), a recently described late onset distal myopathy, to a novel myopathy locus on chromosome 2q31. The mode of inheritance in TMD is autosomal dominant and the typical symptom of ankle dorsiflexion weakness appears in the fourth to seventh decade. Weakness of lower leg muscles is slowly progressive eventually causing a moderate foot drop. Overall disability usually remains mild even in elderly patients and walking ability is preserved throughout the patient's lifetime. The main target of the disease, the tibial anterior muscle, shows progressive dystrophic changes with rimmed vacuoles at the early stages and complete replacement pathology at later stages of the disease. The linkage studies in four different TMD families revealed a common core haplotype with a set of markers on the chromosome 2q31 locus. This indicates one major ancient founder mutation for TMD in Finland. There is one superior candidate gene on the 2q31 locus, the gene encoding a giant protein titin, expressed in heart and skeletal muscle.
Authors:
B Udd; H Haravuori; H Kalimo; J Partanen; L Pulkkinen; A Paetau; L Peltonen; H Somer
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  8     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  1998 Jun 
Date Detail:
Created Date:  1998-10-21     Completed Date:  1998-10-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  327-32     Citation Subset:  IM    
Affiliation:
Neurological Department, Vasa Central Hospital, Finland. bjarne.udd@walli.uwasa.fi
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MeSH Terms
Descriptor/Qualifier:
Chromosomes, Human, Pair 2 / genetics*
Creatine Kinase / blood
Electromyography
Female
Genome
Humans
Linkage (Genetics)
Male
Microscopy, Electron
Middle Aged
Muscle Weakness / genetics,  pathology,  radiography
Muscle, Skeletal / pathology,  radiography,  ultrastructure
Muscular Dystrophies / genetics*,  pathology*,  radiography
Tibia*
Tomography, X-Ray Computed
Chemical
Reg. No./Substance:
EC 2.7.3.2/Creatine Kinase

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


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