Phenotype #0000358045

Individual ID	00473250
Associated disease	MD
Phenotype details	Delayed ability to walk; Lower muscle wasting, since childhood; Proximal muscle weakness, lower limbs, gradually extended to upper limbs; Hyperlordosis; Waddling gait; Gowers sign; EMG-NCV: myogenic process, limb-girdle muscular dystrophy; Muscle biopsy: compatible with muscular dystrophy with prominent intermyofibrillar network disruption as multiple core-like lesions and secondary neurogenic changes are evidence of reinnervations.
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	25y (25 years)
Age/Diagnosis	-
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