Phenotype #0000125002

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00054677
Associated disease	MDC
Phenotype details	proximal weakness, mild scoliosis; CPK elevated (3195); IHC LAMA2; histology dystrophic
Diagnosis/Initial	dystrophy, muscular, congenital
Diagnosis/Definite	MDC-1A
Inheritance	Familial, autosomal recessive
Age/Examination	23y (23 years)
Age/Diagnosis	-
Age/Onset	6m
Phenotype/Onset	-
Protein	-
Owner name	Sandra Cooper
Database submission license	No license selected
Created by	Sandra Cooper
Date created	2015-11-08 12:06:11 +01:00 (CET)
Date last edited	N/A

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