Phenotype #0000094306

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00122778
Associated disease	myalgia
Phenotype details	very mild, phenotype incl. cramps, myalgia, rhabdomyolisis during efforts; no intellectual disability (-HP:0001249)
Diagnosis/Initial	myalgia
Inheritance	Familial, X-linked
Diagnosis/Definite	BMD
Age/Examination	31y (31 years)
Age/Onset	22y
Phenotype/Onset	-
Protein	WB DMD decreased, normal size
Owner name	Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
Database submission license
Created by	Johan den Dunnen
Date created	2006-06-27 13:10:00 +02:00 (CEST)
Date last edited	2012-03-04 15:56:31 +01:00 (CET)

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