Phenotype #0000358668

Individual ID	00473873
Associated disease	neuropathy
Diagnosis/Initial	hereditary neuropathy
Diagnosis/Definite	-
Phenotype details	proximal muscle weakness, calf hypertrophy, positive Gower’s sign, pes cavus, gait abnormality, lordosis, raised CPK(>7000 U/L),muscular dystrophy reported in deltoid muscle biopsy ,gamma sarcoglycanopathy in IHC report, chronic sensorimotor polyneuropathy and irritable myopathy reported in EMG/NCV ,normal brain MRI report and mild TR and MVP in echocardiography.
Inheritance	Unknown
Age/Examination	13y (13 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-06 17:24:40 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD