Global Variome shared LOVD

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Phenotype #0000332001 Individual ID 00442654 Associated disease NMD Diagnosis/Initial Autosomal dominant distal weakness Diagnosis/Definite - Phenotype details Distal anterior myopathy with weakness of neck muscles; muscle biopsy: type 1 fiber size predominance with presence of internal nuclei and core-like structures, dystrophic changes and basophilic vacuoles; CK = 193 U/l Inheritance Unknown Age/Examination 62y (62 years) Age/Diagnosis - Age/Onset 30y 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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