Global Variome shared LOVD

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Phenotype #0000343697 Individual ID 00455105 Associated disease LGMD2 Phenotype details see paper; ..., 1st muscle weakness pelvic-femoral girdles; muscle weakness shoulder and pelvic-femoral girdles, ll distal muscles; still ambulant; contractures Achiles tendons; serum CK level 8 ukat/l; calf hypertrophy muscle pain, scapula alata Diagnosis/Initial limb-girdle muscular dystrophy Diagnosis/Definite LGMDR1 Inheritance Familial, autosomal recessive Age/Examination 32y (32 years) Age/Onset 30y Phenotype/Onset - Age/Diagnosis - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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