Global Variome shared LOVD

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Phenotype #0000311170 Individual ID 00419901 Associated disease MYOP Phenotype details onset infancy/childhood; MRC muscle strength neck neck flexors 3-, neck extensors 4; MRC muscle strength upper limbs generalised weakness upper extremities 4–4+; MRC muscle strength lower limbs hip flexion 4 on right, 3 on left, hip adductors 4-, hip abduction 5, knee flexion/extension 5, ankle dorsiflexion 3+ on right, 0 on left, plantar flexion 5; no facial weakness; calf pseudohypertrophy; no scoliosis; no contractures, joint laxity; forced vital capacity normal; no sleep apnoea; no cognitive impairment; no cardiac involvement; EMG myopathic; normal CK level Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - 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 2022-10-24 22:26:15 +02:00 (CEST) Date last edited N/A

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