Phenotype #0000343730

Individual ID 00455138
Associated disease LGMD2
Phenotype details see paper; ..., dystrophic pattern; 1st muscle weakness pelvic-femoral girdles; muscle weakness shoulder and pelvic-femoral girdles, abdominal muscles; wheellchair bound for longer distance; contractures Achiles tendons; serum CK level 164 ukat/l; calf hypertrophy, cardiomyopathy
Diagnosis/Initial limb-girdle muscular dystrophy
Diagnosis/Definite MDDGC5
Inheritance Familial, autosomal recessive
Age/Examination 25y (25 years)
Age/Onset 4y
Phenotype/Onset -
Age/Diagnosis -
Protein normal IHC
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 2024-10-01 20:00:32 +02:00 (CEST)
Date last edited N/A

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