Global Variome shared LOVD

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Phenotype #0000317763 Individual ID 00426608 Associated disease MDC Phenotype details 14.1y-died; 4m-head control, 10m-sit, 1.3y-walk; no motor regression; no contractures; no spinal deformity; no respiratory involvement; ECG normal; ultrasonic cardiogram mild tricuspid regurgitation; no feeding difficulty; no regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 6.4y-2103 U/L; EMG myopathic changes; MRI brain 7.8y-mild change, occipital pachygyria Diagnosis/Initial limb-girdle muscular dystrophy Diagnosis/Definite LGMDR23 Inheritance Familial, autosomal recessive Age/Examination 14.1y Age/Diagnosis - Age/Onset 6y Phenotype/Onset difficulty running and jumping Protein 7y-IHC weak LAMA2 Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-12-01 16:50:45 +01:00 (CET) Date last edited N/A

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