Phenotype #0000358010

Individual ID 00473215
Associated disease LGMD
Phenotype details onset 5-6y ; Difficulty climbing steps & running; Decreased muscle force; Symmetric proximal limb muscle weakness; Skeletal muscle atrophy; Hip pain; Gowers sign; Gait disturbance; Muscle biopsy: myopathic atrophy, R/O muscular dystrophy; Femur & leg MRI: fatty atrophy & metaphyseal lesion, unilateral; Elevated CPK & Aldolase levels.
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 25y (25 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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