Global Variome shared LOVD

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Phenotype #0000139574 Individual ID 00174747 Associated disease LGMD Phenotype details onset overt symptoms early childhood; CPK raised 27x; impaired gait from toddler age, toe walking, progressive limb-girdle weakness; diffuse muscle atrophy, calf hypertrophy, scoliosis, mild facial weakness; waddling gait Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-08-10 19:10:48 +02:00 (CEST) Date last edited N/A

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