Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000311169 Individual ID 00419900 Associated disease MYOP Phenotype details onset infancy/childhood; MRC muscle strength neck neck flexors/extensors 4-; MRC muscle strength upper limbs 4+ proximally, 5 distally; MRC muscle strength lower limbs hip flexion 3 on right, 4- on left, hip adductors 4-, hip abduction 5, knee flexion/extension 5, ankle dorsiflexion 3+, 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; 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.