Phenotype #0000288835

Individual ID 00395636
Associated disease LGMD
Phenotype details see paper; ..., progressive weakness of limbs, persistent elevated serum creatine kinase, EMG myogenic damages
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMD2B
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein IHC no DYSF
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 2021-12-08 16:43:04 +01:00 (CET)
Date last edited N/A

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