Phenotype #0000345918

Individual ID 00457454
Associated disease MTPD
Phenotype details see paper; ..., myopathic, muscle pain, weakness; elevated CK, myoglobinuria; normal development
Diagnosis/Initial mitochondrial trifunctional protein deficiency
Inheritance Familial, autosomal recessive
Diagnosis/Definite MTPD2
Age/Examination -
Age/Diagnosis -
Age/Onset 15y
Phenotype/Onset myalgia
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-11-12 16:44:10 +01:00 (CET)
Date last edited 2024-11-16 16:41:18 +01:00 (CET)

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