Log In|Sign Up
ENMyopathy with Lactic Acidosis, Hereditary (HML)
Alias:
Myopathy with Exercise Intolerance, Swedish Type
Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase
Hereditary Myopathy with Lactic Acidosis Due to Iscu Deficiency
Myoglobinuria Due to Abnormal Glycolysis
Hml
Hereditary Myopathy with Lactic Acidosis
Iron-Sulfur Cluster Deficiency Myopathy
Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme
Myopathy with Exercise Intolerance Swedish Type
Myopathy with Deficiency of Iscu
Aconitase Deficiency
Iscu Myopathy
Meis
Favorite
Myopathy with Lactic Acidosis, Hereditary, also known as myopathy with exercise intolerance, swedish type, is related to lactic acidosis and lymphoma, and has symptoms including muscle cramp An important gene associated with Myopathy with Lactic Acidosis, Hereditary is ISCU (Iron-Sulfur Cluster Assembly Enzyme). The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and kidney, and related phenotypes are rhabdomyolysis and hypotonia
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
