Congenital Myopathy 4a, Autosomal Dominant (CMYP4A)

Alias:
Nemaline Myopathy 1
Cftdm
Congenital Fiber-Type Disproportion Myopathy
Nem1
Nemaline Myopathy 1, Autosomal Dominant or Recessive
Myopathy, Congenital, with Fiber-Type Disproportion
Fiber-Type Disproportion Myopathy, Congenital
Cap Myopathy 1
Cmyp4a
Cftd
Congenital Myopathy with Fiber Type Disproportion
Myopathy, Congenital, Type 4a
Nemaline Myopathy, Type 1
Cap Myopathy 1, Formerly
Congenital Myopathy 4b
Capm1, Formerly
Cap Myopathy
Capm1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Myopathy 4a, Autosomal Dominant, also known as nemaline myopathy 1, is related to congenital multicore myopathy with external ophthalmoplegia and congenital myopathy 1b, autosomal recessive. An important gene associated with Congenital Myopathy 4a, Autosomal Dominant is TPM3 (Tropomyosin 3), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Cardiac conduction. Affiliated tissues include skeletal muscle and heart, and related phenotypes are hypotonia and type 1 muscle fiber atrophy
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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42
187
57

Medical Symptom

#
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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