Global Variome shared LOVD

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Phenotype #0000357830 Individual ID 00473035 Associated disease MD Phenotype details onset since 6y ago with lower muscle weakness; Abnormal gait, waddling gait; Lordosis; Decreased muscle force & DTR; Mild TR & MR; Elevated CPK, LDH, SGOT & SGPT; EMG: myopathic process; IHC suggestive of Dysferlinopathies; Muscle biopsy: muscular dystrophy with lobulated fibers. Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 37y (37 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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