Myopathy, Myofibrillar, 1 (MFM1)

Alias:
Desmin-Related Myofibrillar Myopathy
Desmin-Related Myopathy
Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy
Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7
Muscular Dystrophy, Limb-Girdle, Type 2r
Myopathy, Myofibrillar, Desmin-Related
Myofibrillar Myopathy 1
Desminopathy
Mfm1
Drm
Cardiomyopathy, Dilated, 1f and Limb-Girdle Muscular Dystrophy Type 1d, Formerly
Myopathy, Myofibrillar, Type 1 (mfm-1, Limb-Girdle Muscular Dystrophy 1d
Cardiomyopathy, Dilated, with Conduction Defect and Muscular Dystrophy
Dilated Cardiomyopathy 1f and Limb-Girdle Muscular Dystrophy Type 1d
Dilated Cardiomyopathy with Conduction Defect and Muscular Dystrophy
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
Inclusion Body Myopathy 1, Autosomal Dominant, Formerly
Familial Arrhythmogenic Right Ventricular Dysplasia 7
Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly
Arrhythmogenic Right Ventricular Cardiomyopathy 7
Autosomal Dominant Inclusion Body Myopathy 1
Dystrophy, Muscular, Limb-Girdle, Type 2r
Myopathy Myofibrillar Desmin-Related
Limb-Girdle Muscular Dystrophy 2r
Cmd1f and Lgmd1d, Formerly
Desmin Related Myopathy
Desminopathy, Primary
Desminopathy Primary
Mfm Desmin-Related
Lgmd2r, Formerly
Cmd1f and Lgmd1d
Arvd7, Formerly
Arvc7, Formerly
Cdcd3, Formerly
Ibm1, Formerly
Lgmd2r
Arvc7
Arvd7
Cdcd3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, Myofibrillar, 1, also known as desmin-related myofibrillar myopathy, is related to cardiomyopathy, dilated, 1a and congenital myopathy 3 with rigid spine, and has symptoms including facial paresis An important gene associated with Myopathy, Myofibrillar, 1 is DES (Desmin), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle and heart, and related phenotypes are distal lower limb muscle weakness and axial muscle weakness
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
--
34
305
111

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

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
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IF
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