Phenotype #0000170713

Individual ID 00225601
Associated disease LGMD
Phenotype details raised CPK (3x), muscle biopsy shows end stage dystrophy; dystrophic muscle pathology; 15y-lost ambulation; 16y-no cardiac/respiratory complications
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 04y
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 2019-02-18 20:10:59 +01:00 (CET)
Date last edited N/A

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