Phenotype #0000231631

Individual ID 00305785
Associated disease LGMD
Phenotype details severe (MRC grade <3/5); lower limbs more severe than upper limbs; distal weakness; myalgia; elevated serum CK (max. 370 IU/L); biopsy myopathic; lobulated fiber; rimmed vacuole;  
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite NM
Age/Examination 41y (41 years)
Age/Diagnosis -
Age/Onset 24y
Phenotype/Onset -
Protein -
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 2020-07-02 12:45:49 +02:00 (CEST)
Date last edited N/A

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