Phenotype #0000153580

Individual ID 00205387
Associated disease MFM
Phenotype details elevated serum creatine phosphokinase (HP:003236) 1.5-2.5x; late-onset distal vacuolar myopathy (protein aggregates); affected finger flexors, mild swallowing difficulties (fluids), coronary heart disease, intermittent atrial fibrillations, diabetes mellitus, hyperlipidemia, hypertonia
Diagnosis/Initial myopathy, myofibrillar, distal vacuolar
Inheritance Unknown
Diagnosis/Definite MFM-2
Age/Examination -
Age/Onset 68y
Phenotype/Onset slowly progressive distal leg weakness/atrophy (bilateral foot extensor weakness)
Protein -
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 2010-04-10 20:56:17 +02:00 (CEST)
Date last edited 2013-02-01 19:44:08 +01:00 (CET)

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