Myopathy, Distal, with Anterior Tibial Onset (DMAT)

Alias:
Distal Myopathy with Anterior Tibial Onset
Dmat
Distal Muscular Dystrophy with Anterior Tibial Onset
Distal Anterior Compartment Myopathy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, Distal, with Anterior Tibial Onset, also known as distal myopathy with anterior tibial onset, is related to myopathy and dysferlinopathy. An important gene associated with Myopathy, Distal, with Anterior Tibial Onset is DYSF (Dysferlin). Affiliated tissues include skeletal muscle and adipocyte, and related phenotypes are abnormal circulating creatine kinase concentration and absent muscle fiber dysferlin

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adolescent
<1/1000000
14
91
15

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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