Phenotype #0000295179

Individual ID 00402415
Associated disease LGMDR2;LGMD2B
Phenotype details LGMD R2 dysfelin related
Diagnosis/Initial LGMDR2-dysferlin related
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMDR2-dysferlin related
Age/Examination 18y (18 years)
Age/Diagnosis 18y
Age/Onset 12y
Phenotype/Onset LGMW
Protein DYSF absentby IHC in muscle biopsy
Owner name JA Bevilacqua
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by JA Bevilacqua
Date created 2022-02-06 04:51:55 +01:00 (CET)
Date last edited 2022-02-24 09:16:48 +01:00 (CET)

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