Phenotype #0000332040

Individual ID 00442693
Associated disease NMD
Diagnosis/Initial Ocular, facio-bulbar and limb girdle muscle weakness
Diagnosis/Definite -
Phenotype details Proximal myopathy with ptosis, scoliosis and mild distal hyperlaxity, in need of assisted nocturnal ventilation; muscle biopsy: increase in internal nuclei with signs of necrosis and regeneration; EMG: no myasthenic decrement, MRI: not indicative of a specific condition; CK = 300 U/l
Inheritance Familial, autosomal recessive
Age/Examination 41y (41 years)
Age/Diagnosis -
Age/Onset 1d
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-11-23 18:48:51 +01:00 (CET)
Date last edited N/A

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