Global Variome shared LOVD

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Phenotype #0000301483 Individual ID 00409362 Associated disease LGMD Phenotype details see paper; ..., (HP:0006466) Ankle contracture, (HP:0003546) Exercise intolerance, (HP:0008180) Mildy elevated creatine kinase, (HP:0030951) Skeletal muscle fibrosis, (HP:0009058) Increased muscle lipid content, (HP:0003557) Increased variability in muscle fiber diameter Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2Y Age/Examination - 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 2022-05-06 20:33:30 +02:00 (CEST) Date last edited 2022-06-01 11:19:57 +02:00 (CEST)

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