Global Variome shared LOVD

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Phenotype #0000314427 Individual ID 00423223 Associated disease MYOP Phenotype details 11y-deceased; rigid spine muscular dystrophy; onset difficult in bending or turning head sideways in addition to spine rigidity; respiratory failure and death at age of 11 yrs; normal muscle strength but with limited chest expansion and weak diaphragm muscles; normal gait but with rigid spine upto cervical region; no delay of motor milestones; spinal rigidity; normal face; normal eyes; normal bulbar/vocal cord; normal cognition; no cardiac involvement; no GI involvement; CK 350-400 u/l Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset 01y Phenotype/Onset difficult in bending or turning head sideways in addition to spine rigidity Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-11-11 16:55:16 +01:00 (CET) Date last edited N/A

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