Phenotype #0000163549

Individual ID 00215097
Associated disease MMD
Phenotype details CPK elevated (HP:0003236) 4000, calf atrophy and unable to stand on tiptoe
Diagnosis/Initial Myoshi myopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite MMD1
Age/Examination -
Age/Diagnosis 34y
Age/Onset 17y
Phenotype/Onset calf atrophy and unable to stand on tiptoe
Protein -
Owner name Rumiko Izumi
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 2020-05-02 18:42:00 +02:00 (CEST)

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