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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Lipska-Zi Tkiewicz</name><affiliation><nlm:affiliation>Department of Biology and Genetics, Medical University of Gdańsk.</nlm:affiliation><wicri:noCountry code="subField">Medical University of Gdańsk</wicri:noCountry></affiliation></author></analytic><series><title level="j">Developmental period medicine</title><idno type="ISSN">1428-345X</idno></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child, Preschool</term><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><term>Sequence Deletion</term><term>Turner Syndrome (complications)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Dystrophine (génétique)</term><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></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Dystrophin</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Muscular Dystrophy, Duchenne</term><term>Turner Syndrome</term></keywords><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></keywords><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></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Myopathie de Duchenne</term></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></keywords><keywords scheme="MESH" xml:lang="fr"><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>Nourrisson</term><term>Syndrome de Turner</term></keywords></textClass></profileDesc></teiHeader><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></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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