Phenotype #0000357006

Individual ID 00472197
Associated disease MMYAT
Diagnosis/Initial Metabolic myopathy
Diagnosis/Definite Myopathy, mitochondrial, and ataxia
Phenotype details EMG abnormality * Increased muscle glycogen content * Type 1 muscle fiber predominance * Abnormal circulating creatine kinase concentration * Axial muscle weakness * Pelvic girdle muscle weakness * Shoulder girdle muscle weakness * Exercise-induced muscle stiffness
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Camille Verebi
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Camille Verebi
Date created 2026-01-15 15:01:57 +01:00 (CET)
Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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