Global Variome shared LOVD

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Phenotype #0000358507 Individual ID 00473712 Associated disease MD Phenotype details Difficulty running, jumping, climbing stairs and walking; Muscle weakness, progressive, proximal>distal, legs>arms; Muscle wasting, arms and thighs; Lordosis; Abnormal gait and elevated level of serum CK. EMG-NCV findings are suggestive of chronic myopathic process without spontaneous activityand Muscle biopsy shows muscular dystrophy Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 19y (19 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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