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 InternationalCreative Commons License
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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