Global Variome shared LOVD

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

Phenotype #0000311174 Individual ID 00419905 Associated disease MYOP Phenotype details congenital; MRC muscle strength neck neck flexors 4-, neck extensors 4; MRC muscle strength upper limbs deltoids and biceps 3+ infraspinatus 4-, supinator 4+, triceps 4, wrist flexors 5, wrist extensors, digit flexors, digit extensors and opponens pollicis 4+, interossei 4+; MRC muscle strength lower limbs iliopsoas, thigh adductors, thigh abductors, gluteus maximus 2, quadriceps 4, hamstrings 4+, tibialis anterior 4+, gastrocnemius and soleus 5, extensor hallucis longus 4+and tibialis posterior and peronei 5; no facial weakness; calf pseudohypertrophy; scoliosis; no contractures; peripheral oxygen saturation 0.84; sleep apnoea; no cognitive impairment; psychiatric symptoms; 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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