Global Variome shared LOVD

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Phenotype #0000353104 Individual ID 00467952 Associated disease hCK Phenotype details see paper; ...,; serum CK level 3453 IU/L; no loss Independent walking; no cardiac involvement; no calf muscle hypertrophy; no scapular winging; no contractures; no myalgia; no scoliosis; no hyperlordosis; HyperCKemia; Decreased tendon reflexes n the arms and legs, recurrent HyperCKemia (1690-8250 IU/L) Diagnosis/Initial hyperCKemia Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR5 Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset 1.5y 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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