Congenital Myopathy 14 (CMYP14)

Alias:
Myopathy, Congenital, with Fast-Twitch Fiber Atrophy
Congenital Myopathy with Reduced Type 2 Muscle Fibers
Cmyp14
Myofta
Myopathy, Congenital, with Fast-Twitch Type Ii Fiber Atrophy
Congenital Myopathy with Reduced Type Ii Muscle Fibers
Congenital Myopathy with Type 2 Muscle Fiber Atrophy
Congenital Myopathy with Fast-Twitch Fiber Atrophy
Congenital Myopathy with Type Ii Fiber Atrophy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Myopathy 14, is also known as myopathy, congenital, with fast-twitch fiber atrophy. An important gene associated with Congenital Myopathy 14 is MYL1 (Myosin Light Chain 1). Affiliated tissues include skeletal muscle and eye, and related phenotypes are hypotonia and respiratory insufficiency due to muscle weakness
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
1
5
1

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

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PMID
Journal
Year
IF
No Data Found!
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