Myotonic Dystrophy 1 (DM1)

Myotonic Dystrophy 1(来自ICD-11)
别称:
Myotonic Dystrophy Type 1
Dystrophia Myotonica
Steinert Disease
Congenital Myotonic Dystrophy
Steinert Myotonic Dystrophy
Steinert Myotonic Dystrophy Syndrome
Dystrophia Myotonica 1
Myotonic Dystrophy
Dm1
Dm
Myotonic Dystrophy of Steinert
Myotonic Dystrophy Congenital
Dystrophy, Myotonic, Type 1
Steinert's Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myotonic Dystrophy 1, also known as myotonic dystrophy type 1, is related to myotonic dystrophy and myotonic dystrophy 2, and has symptoms including excessive daytime somnolence and weakness. An important gene associated with Myotonic Dystrophy 1 is DMPK (DM1 Protein Kinase), and among its related pathways/superpathways is Adipogenesis. The drugs Lamotrigine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and eye, and related phenotypes are muscle weakness and distal muscle weakness
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参考文献
MALACARDS
AD
Unknown
1-5/10000
59
576
387

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