Phenotype #0000357022

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00472213
Associated disease	LGMDR1;LGMD2A
Phenotype details	Progressive proximal muscle weakness, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Abnormality of the mitochondrion, Elevated serum creatine kinase
Diagnosis/Initial	LGMD
Inheritance	Unknown
Diagnosis/Definite	LGMDR1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Camille Verebi
Database submission license
Created by	Camille Verebi
Date created	2026-01-16 12:52:38 +01:00 (CET)
Date last edited	2026-02-06 10:21:15 +01:00 (CET)

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