Global Variome shared LOVD

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Phenotype #0000343636 Individual ID 00455039 Associated disease LGMD2 Phenotype details see paper; ..., ambulant; no facial weakness, no cardiac anomalies; pseudohypertrophy, no atrophy; scoliosis; elevated CK level (24x); EMG myopathic Diagnosis/Initial limb-girdle muscular dystrophy Diagnosis/Definite LGMDR1 Inheritance Familial, autosomal recessive Age/Examination 42y (42 years) Age/Onset 10y-19y 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 13:29:04 +02:00 (CEST) Date last edited N/A

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