Phenotype #0000353086

Individual ID 00467934
Associated disease LGMD
Phenotype details see paper; ..., EMG myogenic pattern; serum CK level 5800 IU/L; 10y-loss Independent walking; no cardiac involvement; calf muscle hypertrophy; scapular winging; contractures; no myalgia; no scoliosis; hyperlordosis; Toe walking; Muscle weakness, fatigue. Proband has an affected sister (genetic testing has not been carried out)
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset 3.5y
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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