Phenotype #0000299789

Individual ID 00407642
Associated disease NM;IBM2
Phenotype details asymetric weakness foot dorsiflexors, bilateral Achilles’ tendon retraction; normal CK; CT fatty change, atrophy tibialis anterior bilaterally; muscle biopsy fiber type grouping angular atrophic fibers (one with rimmed vacuoles), nuclear clumps; slow progression weakness, involvement of distal upper limb muscles; 19y-ambulatory with aid
Diagnosis/Initial motor axonal neuropathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite NM
Age/Examination 54y (54 years)
Age/Diagnosis -
Age/Onset 41y
Phenotype/Onset -
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 2022-04-07 14:35:13 +02:00 (CEST)
Date last edited N/A

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