Log In|Sign Up
ENProximal Myopathy with Focal Depletion of Mitochondria
Favorite
Proximal Myopathy with Focal Depletion of Mitochondria is related to muscular dystrophy, congenital, megaconial type and muscular dystrophy, congenital, lmna-related. An important gene associated with Proximal Myopathy with Focal Depletion of Mitochondria is CHKB (Choline Kinase Beta). Affiliated tissues include skin, and related phenotypes are elevated circulating creatine kinase concentration and proximal muscle weakness
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
