Phenotype #0000170715

Individual ID 00225603
Associated disease LGMD
Phenotype details raised CPK (19x); dystrophic muscle pathology; 12y-lost ambulation; 22y-no cardiac/respiratory complications
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMD2D
Age/Examination -
Age/Diagnosis -
Age/Onset 05y
Phenotype/Onset -
Protein DMD weak, SGCA negative
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 20:24:12 +01:00 (CET)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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