Phenotype #0000358456

Individual ID	00473661
Associated disease	MD
Phenotype details	Difficulty walking and running; Difficulty climbing stairs and rising from seated position; Dysarthria; Muscle weakness, leg>arm; Waddling gait; and Mental retardation, mild. Muscle biopsy showed mild myopathic atrophy with a small group of necrotic and regenerative fibers which could be seen in muscular dystrophies. EMG-NCV findings are normal for EMG, motor and SNCV with no evidence of lower motor neuron lesion
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	15y (15 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