Phenotype #0000299787

Individual ID 00248389
Associated disease NM;IBM2
Phenotype details see paper; ..., weakness of foot dorsal/plantar flexors and hamstrings, leg atrophy, pes cavus; CK level normal; CT fatty change in the gastrocnemius > tibialis anterior, biceps femoris and gluteus medius muscles bilaterally; muscle biopsy internalized nuclei, fiber type grouping; slow progression of weakness; >15y-ambulatory without aid
Diagnosis/Initial motor axonal neuropathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite NM
Age/Examination 50y (50 years)
Age/Diagnosis -
Age/Onset 48y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen
Date created 2022-04-07 14:24:42 +02:00 (CEST)
Date last edited N/A

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