Phenotype #0000353082

Individual ID 00467930
Associated disease LGMD
Phenotype details see paper; ..., EMG myogenic pattern; serum CK level 1596 IU/L; loss Independent walking (with support); no cardiac involvement; calf muscle hypertrophy; no scapular winging; no contractures; no myalgia; no scoliosis; hyperlordosis; Proximal lower limb weakness, difficulty climbing stairs; Areflexia, required assistance to walk
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 43y (43 years)
Age/Diagnosis -
Age/Onset 27y
Phenotype/Onset -
Protein -
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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