Phenotype #0000281597

Individual ID 00388003
Associated disease LGMDR4;LGMD2E
Phenotype details HP:0003701 (proximal muscle weakness), HP:0030234 (highly elevated creatine kinase, 7646 U/L); difficulty getting up from ground and climbing stairs, calf hypertrophy; most-affected muscles hip and knee extensors, ankle dorsiflexors; no cardiac involvement; 12y-ambulant
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMD2E
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset 11y
Phenotype/Onset -
Protein IHC no SGCB
Owner name Micaela Carcione
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Micaela Carcione
Date created 2021-11-01 18:05:57 +01:00 (CET)
Date last edited 2021-11-04 15:42:22 +01:00 (CET)

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