Phenotype #0000163550

Individual ID 00215098
Associated disease MMD
Phenotype details CPK max 1460; 55y-lost ability to walk (HP:0006957), unable to stand on tiptoe
Diagnosis/Initial Myoshi myopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite MMD1
Age/Examination -
Age/Diagnosis 62y
Age/Onset 35y
Phenotype/Onset 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 18:52:35 +02:00 (CEST)

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