Phenotype #0000231423

Individual ID 00305576
Associated disease LGMD
Phenotype details hyperCKemia with severe muscle weakness; difficulties in running and climbing stairs; elevated serum CK (2184 IU/L); ambulant with support; generalized muscle weakness; no calf hypertrophy; no 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 23y6m (23 years, 6 months)
Age/Diagnosis -
Age/Onset 11y
Phenotype/Onset difficulties in running and climbing stairs
Protein IHC SGCA severly reduced, SGCB absent, SGCG reduced
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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