Phenotype #0000343743

Individual ID 00455152
Associated disease LGMD
Phenotype details see paper; ..., mild proximal muscle weakness, elevated CK levels (6698 IU/L); muscle biopsy clusters of fibre necrosis associated with very dense macrophage infiltrates, small numbers of lymphocytes; no eosinophils; MRI bilateral fatty replacement posterior thigh/calf muscles
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMDR1
Age/Examination 33y (33 years)
Age/Diagnosis -
Age/Onset -
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 2024-10-01 20:56:38 +02:00 (CEST)
Date last edited N/A

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