Phenotype #0000343729

Individual ID 00455137
Associated disease LGMD2
Inheritance Familial, autosomal recessive
Diagnosis/Initial limb-girdle muscular dystrophy
Age/Examination 8y (8 years)
Diagnosis/Definite MDDGC5
Age/Diagnosis -
Age/Onset 5y
Phenotype/Onset -
Phenotype details see paper; ..., 1st muscle weakness pelvic-femoral girdles; muscle weakness pelvic-femoral girdles; still ambulant; contractures Achiles tendons; serum CK level 65 ukat/l; calf hypertrophy, pain of LL muscles (associated with fatigue)
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 2024-10-01 20:00:32 +02:00 (CEST)
Date last edited N/A

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