Phenotype #0000164210

Individual ID 00215758
Associated disease LGMD
Phenotype details 51y-progressive weakness lower limbs/distal paresthesias; CPK elevated (HP:0003236) 836-1206
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite LGMD2B
Age/Examination -
Age/Diagnosis -
Age/Onset 47y
Phenotype/Onset chronic lower back pain
Protein IHC no DYSF, normal DMD, SGCB
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 2012-01-03 10:37:10 +01:00 (CET)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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