Document Detail

Clinical and genetic heterogeneity in myotonic dystrophies.
MedLine Citation:
PMID:  11102902     Owner:  NLM     Status:  MEDLINE    
This review of myotonic dystrophies primarily concentrates on the clinical and genetic findings that can distinguish a novel form of myotonic dystrophy, myotonic dystrophy type 2 (DM2); proximal myotonic myopathy (PROMM); and proximal myotonic dystrophy (PDM) from myotonic dystrophy type 1 (DM1). The multisystemic nature of these disorders leads to a spectrum of symptoms and signs. Careful clinical evaluation of patients with DM2/PROMM shows that the similarities among the multisystemic myotonic disorders outweigh the differences. An important point in the comparison of the phenotypes of DM1 and DM2/PROMM is that no severe congenital type of DM2/PROMM has yet been described. Genetic linkage analyses show that myotonic dystrophies can be divided into three types: the conventional Steinert type linked to chromosome 19q13.3 (DM1); DM2/PROMM and PDM linked to chromosome 3q21.3; and families not linked to either chromosomal site. Although the diagnosis may be clinically suspected, it depends on DNA analysis.
G Meola
Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Muscle & nerve     Volume:  23     ISSN:  0148-639X     ISO Abbreviation:  Muscle Nerve     Publication Date:  2000 Dec 
Date Detail:
Created Date:  2000-12-12     Completed Date:  2000-12-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7803146     Medline TA:  Muscle Nerve     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1789-99     Citation Subset:  IM    
Copyright Information:
Copyright 2000 John Wiley & Sons, Inc.
Dipartimento di Neurologia, Istituto Policlinico San Donato, Università di Milano, Via Morandi, 30, 20097 San Donato Milanese, Milano, Italy.
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MeSH Terms
Chromosome Mapping*
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 3
Diagnosis, Differential
Myotonic Dystrophy / classification,  genetics*,  physiopathology*

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