Phenotype #0000353077

Individual ID 00467925
Associated disease LGMD
Phenotype details see paper; ..., EMG myogenic pattern; serum CK level 1496 IU/L; no loss Independent walking; no cardiac involvement; calf muscle hypertrophy; scapular winging; no contractures; myalgia; no scoliosis; hyperlordosis; Difficulty climbing stairs and getting up from a squatting position; Proximal muscle weakness and hypotrophy, absent tendon reflexes, Gowers' sign
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 30y (30 years)
Age/Diagnosis -
Age/Onset 12y
Phenotype/Onset -
Protein IHC decreased SGCA, SGCB, SGCG, DMD in muscle fibers
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 2025-11-03 21:05:11 +01:00 (CET)
Date last edited N/A

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