Myopathy, Distal, 1 (MPD1)

Alias:
Laing Early-Onset Distal Myopathy
Laing Distal Myopathy
Mpd1
Distal Myopathy 1
Distal Myopathy Type 1
Gowers Disease
Myopathy, Distal, Early-Onset, Autosomal Dominant
Myopathy Distal Early-Onset Autosomal Dominant
Myopathy, Late Distal Hereditary
Myopathy Late Distal Hereditary
Myh7-Related Skeletal Myopathy
Welander Distal Myopathy
Myopathy, Distal, Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, Distal, 1, also known as laing early-onset distal myopathy, is related to cardiac conduction defect and limb-girdle muscular dystrophy, and has symptoms including myalgia An important gene associated with Myopathy, Distal, 1 is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Sweet Taste Signaling and RNA Polymerase II Transcription Initiation And Promoter Clearance. Affiliated tissues include skeletal muscle, and related phenotypes are foot dorsiflexor weakness and toe extensor amyotrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
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31
240
49

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature

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PMID
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IF
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