Phenotype #0000164282

Individual ID 00215830
Associated disease MMD
Phenotype details muscle biopsy amyloid; CPK elevated (HP:0003236) 17,972; still able to walk (-HP:0006957) 38y
Diagnosis/Initial Myoshi myopathy
Inheritance Unknown
Diagnosis/Definite MMD-1
Age/Examination -
Age/Diagnosis -
Age/Onset 17y
Phenotype/Onset weakness distal lower extremities
Protein IHC no DYSF, CAV3 reduced, UTRN normal
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 2012-01-03 10:37:11 +01:00 (CET)
Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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