Phenotype #0000341394

Individual ID 00452831
Associated disease ?
Diagnosis/Initial muscle weakness
Diagnosis/Definite -
Phenotype details see paper; ..., 37y-deceased heart failure; 3y-proximal lower limb weakness; 6y-calf hypertrophy; 28y-dilated cardiomyopathy during pregnancy; severe mental retardation; limb-girdle muscle weakness, reduced tendon reflexes, no pathological signs observed; mildly elevated creatine kinase levels (400-600 IU/L)
Inheritance Unknown
Age/Examination 37y (37 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-07-24 20:43:09 +02:00 (CEST)
Date last edited N/A

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