Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy

Myotonic dystrophy (DM) is a multisystemic disease caused by the expansion of a CTG repeat, located in the 3′‐untranslated region of the DMPK gene. The number of CTG repeats broadly correlates with the overall severity of the disease. However, correlations between CTG repeat number and presence/abse...

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Published in:Clinical genetics 2000-01, Vol.57 (1), p.74-82
Main Authors: Marchini, Corrado, Lonigro, Renata, Verriello, Lorenzo, Pellizzari, Lucia, Bergonzi, Paolo, Damante, Giuseppe
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age of Onset
Alleles
Biological and medical sciences
Cognition
CTG repeat
Diseases of striated muscles. Neuromuscular diseases
Female
Genotype
genotype-phenotype correlation
Humans
Male
Medical sciences
Memory, Short-Term
Middle Aged
myotonic dystrophy
Myotonic Dystrophy - genetics
Myotonin-Protein Kinase
Neurology
Phenotype
Protein-Serine-Threonine Kinases - genetics
Sequence Analysis, DNA
Trinucleotide Repeat Expansion
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container_issue 1
container_start_page 74
container_title Clinical genetics
container_volume 57
creator Marchini, Corrado
Lonigro, Renata
Verriello, Lorenzo
Pellizzari, Lucia
Bergonzi, Paolo
Damante, Giuseppe
description Myotonic dystrophy (DM) is a multisystemic disease caused by the expansion of a CTG repeat, located in the 3′‐untranslated region of the DMPK gene. The number of CTG repeats broadly correlates with the overall severity of the disease. However, correlations between CTG repeat number and presence/absence or severity of individual clinical manifestations in the same patients are yet scarce. In this study the number of CTG repeats detected in blood cells of 24 DM subjects was correlated with the severity of single clinical manifestations. The presence/absence of muscular atrophy, respiratory insufficiency, cardiac abnormalities, diabetes, cataract, sleep disorders, sterility or hypogonadism is not related to the number of CTG repeats. Muscular atrophy and respiratory insufficiency are present with the highest frequency, occurring in 96 and 92% of the cases, respectively. A significant correlation was found with age of onset (r=−0.57, p
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Neuromuscular diseases</topic><topic>Female</topic><topic>Genotype</topic><topic>genotype-phenotype correlation</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Memory, Short-Term</topic><topic>Middle Aged</topic><topic>myotonic dystrophy</topic><topic>Myotonic Dystrophy - genetics</topic><topic>Myotonin-Protein Kinase</topic><topic>Neurology</topic><topic>Phenotype</topic><topic>Protein-Serine-Threonine Kinases - genetics</topic><topic>Sequence Analysis, DNA</topic><topic>Trinucleotide Repeat Expansion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Marchini, Corrado</creatorcontrib><creatorcontrib>Lonigro, Renata</creatorcontrib><creatorcontrib>Verriello, Lorenzo</creatorcontrib><creatorcontrib>Pellizzari, Lucia</creatorcontrib><creatorcontrib>Bergonzi, Paolo</creatorcontrib><creatorcontrib>Damante, Giuseppe</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Marchini, Corrado</au><au>Lonigro, Renata</au><au>Verriello, Lorenzo</au><au>Pellizzari, Lucia</au><au>Bergonzi, Paolo</au><au>Damante, Giuseppe</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clinical Genetics</addtitle><date>2000-01</date><risdate>2000</risdate><volume>57</volume><issue>1</issue><spage>74</spage><epage>82</epage><pages>74-82</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><notes>istex:A7047C0CDBEE552BDD4CF6484C961F9C0BE2E3FF</notes><notes>ark:/67375/WNG-6WM1HSXJ-X</notes><notes>ArticleID:CGE570112</notes><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>Myotonic dystrophy (DM) is a multisystemic disease caused by the expansion of a CTG repeat, located in the 3′‐untranslated region of the DMPK gene. The number of CTG repeats broadly correlates with the overall severity of the disease. However, correlations between CTG repeat number and presence/absence or severity of individual clinical manifestations in the same patients are yet scarce. In this study the number of CTG repeats detected in blood cells of 24 DM subjects was correlated with the severity of single clinical manifestations. The presence/absence of muscular atrophy, respiratory insufficiency, cardiac abnormalities, diabetes, cataract, sleep disorders, sterility or hypogonadism is not related to the number of CTG repeats. Muscular atrophy and respiratory insufficiency are present with the highest frequency, occurring in 96 and 92% of the cases, respectively. A significant correlation was found with age of onset (r=−0.57, p&lt;0.01), muscular disability (r=0.46, p&lt;0.05), intellective quotient (r=−0.58, p&lt;0.01) and short‐term memory (r=−0.59, p&lt;0.01). 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1399-0004
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source Wiley Online Library
subjects Adolescent
Adult
Age of Onset
Alleles
Biological and medical sciences
Cognition
CTG repeat
Diseases of striated muscles. Neuromuscular diseases
Female
Genotype
genotype-phenotype correlation
Humans
Male
Medical sciences
Memory, Short-Term
Middle Aged
myotonic dystrophy
Myotonic Dystrophy - genetics
Myotonin-Protein Kinase
Neurology
Phenotype
Protein-Serine-Threonine Kinases - genetics
Sequence Analysis, DNA
Trinucleotide Repeat Expansion
title Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy
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