Global Variome shared LOVD

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

Phenotype #0000311175 Individual ID 00419906 Associated disease MYOP Phenotype details congenital; MRC muscle strength neck neck flexors 4-, neck extensors 4+; MRC muscle strength upper limbs deltoids 3+, biceps 4, supinator 4, infraspinatus 4–, triceps 4–, wrist flexors 4+, wrist extensors 4+, digit flexors 4+, digit extensors 4+, opponens pollicis 4+, flexor digitorum profundus and abductor digit minimi 4+; MRC muscle strength lower limbs iliopsoas and thigh abductors 1; thigh adductors 2, gluteus maximus 3, quadriceps 4, hamstrings 4+, tibialis anterior 4, gastrocnemius 4+, extensor hallucis longus 4 and tibialis posterior and peronei 5; no facial weakness; calf pseudohypertrophy; no scoliosis; no contractures; peripheral oxygen saturation 0.86; no 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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