Phenotype #0000231426

Individual ID 00305579
Associated disease LGMD
Phenotype details hyperCKemia with intermediate muscle weakness; early fatigue; elevated serum CK (8022 IU/L); unable to run; proximal muscle weakness; calf hypertrophy; tendon contractures; no scapular winging; no muscle pain; muscle biopsy dystrophic
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMD2E
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset early fatigue
Protein IHC SGCA slightly reduced, SGCB reduced, SGCG slightly 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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