Phenotype #0000295178

Individual ID 00402414
Associated disease LGMDR2;LGMD2B
Phenotype details -
Diagnosis/Initial LGMDR2-dysferlin related
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMDR2-dysferlin related
Age/Examination 40y (40 years)
Age/Diagnosis 41y
Age/Onset 25y
Phenotype/Onset distal myopathy
Protein DYSF absent by 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 04:40:58 +01:00 (CET)
Date last edited 2022-02-24 09:15:12 +01:00 (CET)

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