Log In|Sign Up
ENCongenital Myopathy 13 (CMYP13)
Alias:
Native American Myopathy
Bailey-Bloch Congenital Myopathy
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome
Myopathy, Congenital, Bailey-Bloch
Cmyp13
Mypbb
Nam
Myopathy, Congenital, with Myopathic Facies, Scoliosis, and Malignant Hyperthermia
Congenital Myopathy with Cleft Palate and Malignant Hyperthermia
Myopathy, Congenital, Baily-Bloch
Favorite
Congenital Myopathy 13, also known as native american myopathy, is related to congenital myopathy and malignant hyperthermia susceptibility. An important gene associated with Congenital Myopathy 13 is STAC3 (SH3 And Cysteine Rich Domain 3), and among its related pathways/superpathways are Myometrial relaxation and contraction pathways and Presenilin-Mediated Signaling. Affiliated tissues include skeletal muscle, and related phenotypes are muscle weakness and myopathic facies
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
