Phenotype #0000358255

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473460
Associated disease	MD
Phenotype details	onset 37y, Difficulty walking & rising from seated position; Proximal muscle weakness, lower > upper limbs; Gowers sign; EMG: chronic irritable myopathy; Increased CPK & Aldolase; Thigh MRI showed severe atrophy and fat deposition
Diagnosis/Initial	muscular dystrophy
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	42y (42 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

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