Global Variome shared LOVD

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Phenotype #0000331955 Individual ID 00442608 Associated disease MDC Phenotype details see paper; ..., 9m-muscle biopsy; weak cry, poor suck, respiratory insufficiency, limb and facial muscle weakness, hypotonia; unable to sit; elevated creatine kinase (1458 IU/L); MRI brain T2-weighted imaging hyperintensity white matter; MRI skeletal muscletrophy and fat replacement in muscles (rectus femoris, vastus lateralis, soleus, gastrocnemius) Diagnosis/Initial muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC reduced LAMA2 Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-22 16:54:01 +01:00 (CET) Date last edited N/A

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