Phenotype #0000092778
Individual ID |
00052360 |
Associated disease |
BMD |
Phenotype details |
large calves, able to walk-16m, run, go up/down steps with no difficulty; mild muscular symptoms; EMG-short-primary myopathy (duration and low-amplitude motor unit potentials); biopsy myopathic changes (slight atrophy type 1/2 fibers, diameter variations, perimysial/endomysial fibrosis; IHC-limited number isolated attenuated fibers; no scoliosis (-HP:0002650); no contractures (-HP:0001371); CK level 20145 IU/L; no cardiomyopathy (-HP:0001638); no restrictive lung disease (-HP:0002091) |
Diagnosis/Initial |
dystrophy, muscular, Becker type (BMD) |
Inheritance |
Familial, X-linked recessive |
Diagnosis/Definite |
dystrophy, muscular, Becker type (BMD) |
Age/Examination |
- |
Age/Onset |
05y |
Phenotype/Onset |
frequent muscle cramps |
Age/Diagnosis |
- |
Protein |
IHC DMD present (Dys-1/2/3) |
Owner name |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2015-10-22 22:47:02 +02:00 (CEST) |
Date last edited |
N/A |
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