Phenotype #0000358451

Individual ID	00473656
Associated disease	MYOP
Diagnosis/Initial	myopathy
Diagnosis/Definite	-
Phenotype details	Proximal muscle weakness, progressive, lower limbs>upper limbs; Pelvic girdle weakness; Muscle stiffness, lower limbs; Prominent calves, mild; Difficulty walking, running and climbing stairs; Abnormal gait; Fatigue; Lordosis and Scoliosis. EMG-NCV findings are compatible with a mild myopathic process without any spontaneous activity. Muscle biopsy reveals marked chronic myopathic atrophy with some degenerative/regenerative fibers associated with prominent adipose tissue replacement, some inter-myofibrillar network pattern disruption as well as few autophagic vacuoles and multiple lobulated fibers. IHC showed weak labeling of some fibers with dystrophin central rod and N-terminal antibodies and few lysosomal vacuoles are labeled
Inheritance	Unknown
Age/Examination	39y (39 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