Phenotype #0000166301

Individual ID 00217851
Associated disease MMEO
Phenotype details Minicores/cores in muscle biopsy; mild myopathy of quadriceps; CPK elevated (HP:0003236) 3-6x higher; normal motor ability
Diagnosis/Initial minicore myopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite MMD
Age/Examination -
Age/Diagnosis -
Age/Onset >20y
Phenotype/Onset excessive muscle fatigue; elevated CKs
Protein -
Owner name Jorge Oliveira
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-09-03 16:33:29 +02:00 (CEST)
Date last edited 2012-03-09 19:08:25 +01:00 (CET)

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