Global Variome shared LOVD

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Phenotype #0000358310 Individual ID 00473515 Associated disease MD Phenotype details Motor developmental delay; Delayed walking; Limb-girdle muscle weakness; Difficulty rising from seated position; Mildly abnormal gait; EMG/NCV: myopathic process suggestive of congenital myopathy, or muscular dystrophy; Elevated level of CPK; Muscle biopsy: muscular dystrophy other than Duchenne. Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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