Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.
Identifieur interne : 012E59 ( Main/Exploration ); précédent : 012E58; suivant : 012E60Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.
Auteurs : Ewa Kaczorowska ; Janusz Zimowski ; Monika Cicho Kotek ; Agnieszka Mrozi Ska ; Joanna Purzycka ; Jolanta Wierzba ; Janusz Limon ; Beata S. Lipska-Zi TkiewiczSource :
- Developmental period medicine [ 1428-345X ]
Descripteurs français
- KwdFr :
- MESH :
- diagnostic : Myopathie de Duchenne.
- génétique : Dystrophine.
- métabolisme : Myopathie de Duchenne.
- Délétion de séquence, Enfant d'âge préscolaire, Femelle, Humains, Mutation avec décalage du cadre de lecture, Myopathie de Duchenne, Nourrisson, Syndrome de Turner.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Dystrophin.
- complications : Muscular Dystrophy, Duchenne, Turner Syndrome.
- diagnosis : Muscular Dystrophy, Duchenne.
- metabolism : Muscular Dystrophy, Duchenne.
- Child, Preschool, Female, Frameshift Mutation, Humans, Infant, Sequence Deletion.
Abstract
Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally.
PubMed: 28216480
Affiliations:
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Le document en format XML
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<wicri:noCountry code="subField">Medical University of Gdańsk</wicri:noCountry>
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<term>Dystrophin (genetics)</term>
<term>Female</term>
<term>Frameshift Mutation</term>
<term>Humans</term>
<term>Infant</term>
<term>Muscular Dystrophy, Duchenne (complications)</term>
<term>Muscular Dystrophy, Duchenne (diagnosis)</term>
<term>Muscular Dystrophy, Duchenne (metabolism)</term>
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<term>Turner Syndrome (complications)</term>
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<term>Délétion de séquence</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mutation avec décalage du cadre de lecture</term>
<term>Myopathie de Duchenne ()</term>
<term>Myopathie de Duchenne (diagnostic)</term>
<term>Myopathie de Duchenne (métabolisme)</term>
<term>Nourrisson</term>
<term>Syndrome de Turner ()</term>
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<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Muscular Dystrophy, Duchenne</term>
<term>Turner Syndrome</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Muscular Dystrophy, Duchenne</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Myopathie de Duchenne</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Dystrophine</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Muscular Dystrophy, Duchenne</term>
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</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child, Preschool</term>
<term>Female</term>
<term>Frameshift Mutation</term>
<term>Humans</term>
<term>Infant</term>
<term>Sequence Deletion</term>
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<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mutation avec décalage du cadre de lecture</term>
<term>Myopathie de Duchenne</term>
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<front><div type="abstract" xml:lang="en">Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally.</div>
</front>
</TEI>
<affiliations><list></list>
<tree><noCountry><name sortKey="Cicho Kotek, Monika" sort="Cicho Kotek, Monika" uniqKey="Cicho Kotek M" first="Monika" last="Cicho Kotek">Monika Cicho Kotek</name>
<name sortKey="Kaczorowska, Ewa" sort="Kaczorowska, Ewa" uniqKey="Kaczorowska E" first="Ewa" last="Kaczorowska">Ewa Kaczorowska</name>
<name sortKey="Limon, Janusz" sort="Limon, Janusz" uniqKey="Limon J" first="Janusz" last="Limon">Janusz Limon</name>
<name sortKey="Lipska Zi Tkiewicz, Beata S" sort="Lipska Zi Tkiewicz, Beata S" uniqKey="Lipska Zi Tkiewicz B" first="Beata S" last="Lipska-Zi Tkiewicz">Beata S. Lipska-Zi Tkiewicz</name>
<name sortKey="Mrozi Ska, Agnieszka" sort="Mrozi Ska, Agnieszka" uniqKey="Mrozi Ska A" first="Agnieszka" last="Mrozi Ska">Agnieszka Mrozi Ska</name>
<name sortKey="Purzycka, Joanna" sort="Purzycka, Joanna" uniqKey="Purzycka J" first="Joanna" last="Purzycka">Joanna Purzycka</name>
<name sortKey="Wierzba, Jolanta" sort="Wierzba, Jolanta" uniqKey="Wierzba J" first="Jolanta" last="Wierzba">Jolanta Wierzba</name>
<name sortKey="Zimowski, Janusz" sort="Zimowski, Janusz" uniqKey="Zimowski J" first="Janusz" last="Zimowski">Janusz Zimowski</name>
</noCountry>
</tree>
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</record>
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