Phenotype #0000347904

Individual ID 00220287
Associated disease LGMD
Phenotype details see paper; ..., muscle weakness, myopathy, toe-walker; EMG abnormal; elevated CK level
Diagnosis/Initial muscle weakness
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset 04y
Phenotype/Onset -
Protein HC Dys-rod/Dys-C presen, Dys-N weak/absent; DGCa weak/absent
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 2025-01-19 14:33:55 +01:00 (CET)
Date last edited N/A

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