Phenotype #0000092777

Individual ID 00049064
Associated disease BMD
Phenotype details exercise-induced myalgia, recurrent pigmenturia, mild proximal muscle involvement, mild scapular winging, mild calf hypertrophy; CK level 1856-7820
Diagnosis/Initial dystrophy, muscular, Becker type (BMD)
Inheritance Familial, X-linked recessive
Diagnosis/Definite dystrophy, muscular, Becker type (BMD)
Age/Examination -
Age/Onset -
Phenotype/Onset excercise-induced fatigability, back pain, muscle cramps, recurrent myalgia, pigmenturia
Age/Diagnosis -
Protein IHC DMD-rod absent, N-/C- near 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 2015-09-06 16:34:00 +02:00 (CEST)
Date last edited N/A

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