Global Variome shared LOVD

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Phenotype #0000331979 Individual ID 00442632 Associated disease NMD Diagnosis/Initial Myalgia, silent muscle cramps, asthma, unilateral deafness Diagnosis/Definite - Phenotype details Limb-girdle weakness; muscle biopsy: increase in fiber type variation (type 1 predominance) and increase in internal nuclei, sporadic necrotic fibers and signs of regeneration; CK = 1732 U/l Inheritance Familial, autosomal recessive Age/Examination 44y (44 years) Age/Diagnosis - Age/Onset 42y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-23 18:48:51 +01:00 (CET) Date last edited N/A

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