Global Variome shared LOVD

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Phenotype #0000353081 Individual ID 00467929 Associated disease LGMD Phenotype details see paper; ...,; serum CK level 8525 IU/L; no loss Independent walking; no cardiac involvement; calf muscle hypertrophy; scapular winging; no contractures; myalgia; no scoliosis; hyperlordosis; Leg pain, post-exercise fatigue; Pseudohypertrophy in all muscle groups, muscle strength is reduced, lipoma up to 6cm is palpated in the area of the right scapula, Gowers' sign, toe walking, flat valgus feet Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset 5y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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