Phenotype #0000106388

Individual ID 00133641
Associated disease LGMD
Phenotype details proximal lower > upper extermity weakness; FVC 0.76; no intellectual disability (-HP:0001249); 3y-motor ability OK; 3849 elevated CPK (HP:0003236)
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMD2E
Age/Examination -
Age/Diagnosis 10y
Age/Onset 3y
Phenotype/Onset -
Protein reduced DMD/SGC expression and dystroglycans, upregulated sarcolemmal UTRN, normal spectrin
Owner name Vikki Stefans
Database submission license No license selected
Created by Vikki Stefans
Date created 2014-09-12 05:01:32 +02:00 (CEST)
Date last edited 2020-10-04 11:06:22 +02:00 (CEST)

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