Phenotype #0000164229

Individual ID 00215777
Associated disease MMD
Phenotype details calf atrophy, weakness quadriceps muscles thighs; CPK elevated (HP:0003236) 2000-4000
Diagnosis/Initial Myoshi myopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite MMD-1
Age/Examination -
Age/Diagnosis -
Age/Onset 30y
Phenotype/Onset proximal muscle weakness, difficulty climbing stairs/running
Protein IHC DYSF present, CAPN3 normal; WN 73 kD DYSF
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 2012-03-09 19:02:28 +01:00 (CET)

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