Phenotype #0000351841

Individual ID 00466478
Associated disease NMD
Diagnosis/Initial neuromuscular disorder
Diagnosis/Definite MPXPS
Phenotype details see paper; ..., late-onset myopathy; 29y-progressive proximal weakness, ataxia, wasting, migraines, diabetes, transient ischemic attacks, dysphagia, dementia; elevated CK, elevated LDH, cerebral atrophy, sensory axonal polyneuropathy, wheelchair-bound
Inheritance Familial, autosomal recessive
Age/Examination 59y (59 years)
Age/Diagnosis -
Age/Onset -
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 2025-09-08 13:09:59 +02:00 (CEST)
Date last edited N/A

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