Phenotype #0000231425

Individual ID 00305578
Associated disease LGMD
Phenotype details hyperCKemia with severe muscle weakness; abnormal gait; elevated serum CK (3950 IU/L); unable to run; generalized muscle weakness; calf hypertrophy; tendon contractures; scapular winging; no muscle pain; muscle biopsy dystrophic
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMD2D
Age/Examination 12y2m (12 years, 2 months)
Age/Diagnosis -
Age/Onset 8y2m
Phenotype/Onset abnormal gait
Protein IHC SGCA severly reduced, SGCB absent, SGCG absent
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 2020-06-30 17:17:40 +02:00 (CEST)
Date last edited N/A

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