Phenotype #0000117376

Individual ID 00144639
Associated disease hCK
Phenotype details calf hypertrophy (HP:0008981), muscle pain (HP:0003326), no exercise-indiced muscle cramps (-HP:0003710), increased fatigability (HP:0003710), decreased muscle tone (HP:0001290), no decreased tendon reflexes (-HP:0001315), no decreased muscle force, elevated serum CPK (HP:0000003236) 3184 (normal 0-170)
Diagnosis/Initial hyperCKemia
Inheritance Familial, X-linked recessive
Diagnosis/Definite dystrophy, muscular, Becker (BMD)
Age/Examination 8y (8 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2017-12-18 22:22:11 +01:00 (CET)
Date last edited N/A

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