Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Muscular Dystrophies
Término preferido
Myotonic Dystrophy
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Tipo
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mesh:Descriptor
Definición
- Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
Concepto genérico
Etiquetas alternativas
- Dystrophia Myotonica
- Dystrophia Myotonica 1
- Myotonia Atrophica
- Myotonia Dystrophica
- Myotonic Dystrophy 1
- Steinert Disease
- Steinert Myotonic Dystrophy
- Steinert's Disease
En otras lenguas
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francés
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DM1 (Dystrophie Myotonique de type 1)
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Dystrophie myotonique de Steinert
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Dystrophie myotonique de type 1
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Maladie de Steinert
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Myopathie atrophique avec myotonie
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Myotonie atrophique de Steinert
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Myotonie dystrophique
URI
http://data.loterre.fr/ark:/67375/JVR-G9396H6L-R
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