Phenotype #0000163601

Individual ID 00215149
Associated disease MMD
Phenotype details waddling/steppage gait; CPK elevated (HP:0003236) 7860; still able to walk (-HP:0006957) 32y
Diagnosis/Initial Myoshi myopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite MMD-1
Age/Examination -
Age/Diagnosis -
Age/Onset 20y
Phenotype/Onset instabilty standing toes
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 2007-08-24 21:14:02 +02:00 (CEST)
Date last edited 2012-03-04 15:57:30 +01:00 (CET)

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