212140.7.1

Lebanon

Dilated cardiomyopathy; Left ventricular systolic dysfunction; Mitral regurgitation; Decreased plasma carnitine

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003060.3:c.760C>T	2	NA	Carnitine Deficiency, Systemic Primary

Proband from 'Family B' in the publication

Related Subjects

Subject Id	Country	Sex	Family History	Parental Consanguinity	Remarks
212140.7.2	Lebanon	Male	No	No	Father of 212140.7.1
212140.7.3	Lebanon	Female	No	No	Mother of 212140.7.1
212140.7.4	Lebanon	Male	Yes	No	Brother of 212140.7.1