Global Variome shared LOVD

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Phenotype #0000162039 Individual ID 00213585 Associated disease NEM Phenotype details 40y-respiratory problems exertional/nocturnal; 54y-pulmonological workup hypercapnic respiratory failure, severe restriction vital capacity, moderate restriction total lung capacity; nocturnal continuous positive airway pressure ventilation initiated; cardiological investigations normal; 54y-muscle biopsy myopathic features, type 1-fiber predominance; 57y-long face, mild facial weakness, high arched palate, slender build, generalized muscle weakness/wasting accentuated in proximal muscle groups, winging of both scapulae and moderate thoracic scoliosis; no swallowing difficulties; CPK normal Diagnosis/Initial nemaline myopathy Inheritance Isolated (sporadic) Diagnosis/Definite NEM-1 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset generalized muscle weakness Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-03-18 12:13:17 +01:00 (CET) Date last edited 2012-03-18 12:14:48 +01:00 (CET)

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