Phenotype #0000203450

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00265663
Associated disease	LGMD
Phenotype details	severe and generalized muscle weakness, congenital hypotonia; elevated CK (1905 U/l); biopsy No dystrophic changes. Partial merosin deficiency
Diagnosis/Initial	LGMD
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2M
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-09-30 11:53:15 +02:00 (CEST)
Date last edited	2020-10-04 11:04:50 +02:00 (CEST)

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