Congenital Myopathy 7a, Myosin Storage, Autosomal Dominant (CMYP7A)

Alias:
Myopathy, Myosin Storage, Autosomal Dominant
Msma
Scapuloperoneal Muscular Dystrophy
Myopathy with Lysis of Type I Myofibrils
Scapuloperoneal Syndrome, Myopathic Type
Autosomal Dominant Hyaline Body Myopathy
Cmyp7a
Spmm
Spmd
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures
Scapuloperoneal Muscular Dystrophy with Early Contractures
Myopathy, Hyaline Body, Autosomal Dominant
X-Linked Emery-Dreifuss Muscular Dystrophy
Autosomal Dominant Myosin Storage Myopathy
Erb Pseudohypertrophic Muscular Dystrophy
Hyaline Body Myopathy Autosomal Dominant
Myopathy, Scapuloperoneal, Myh7-Related
Scapuloperoneal Myopathy, Myh7-Related
Scapuloperoneal Myopathy Myh7-Related
Scapuloperoneal Dystrophy
Scapuloperoneal Syndrome
Myosin Storage Myopathy
Congenital Myopathy 7a
Erb Muscular Dystrophy
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Myopathy 7a, Myosin Storage, Autosomal Dominant, also known as myopathy, myosin storage, autosomal dominant, is related to hyaline body myopathy and myh7-related late-onset scapuloperoneal muscular dystrophy, and has symptoms including waddling gait An important gene associated with Congenital Myopathy 7a, Myosin Storage, Autosomal Dominant is MYH7 (Myosin Heavy Chain 7). The drugs Salbutamol and Tocolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and lung, and related phenotypes are emg: myopathic abnormalities and shoulder girdle muscle weakness
Related ID:
MESH:D009135
ICD11:1224331149

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
--
11
72
30

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
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
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top