253600.2.G.2 - CAGS

253600.2.G.2

Country

Lebanon

HPO Terms

Elevated circulating creatine kinase concentration

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Family History

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000070.2:c.257C>T	7

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Remarks

7 unaffected relatives of 253600.2 who exhibited elevated serum creatine kinase.

References

Richard et al. 1997

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
253600.2.1	Lebanon	Elevated circulating creatine kinase concentration; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy	Female	Yes	No
253600.2.2	Lebanon	Elevated circulating creatine kinase concentration; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy	Male	Yes	No	Brother of patient 253600.2.1.
253600.2.3	Lebanon	Elevated circulating creatine kinase concentration; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Calf muscle hypertrophy	Male	Yes	Yes	cousin of patient 253600.2.1.
253600.2.4	Lebanon	Elevated circulating creatine kinase concentration; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy	Male	Yes	Yes	cousin of patient 253600.2.1.
253600.2.5	Lebanon	Elevated circulating creatine kinase concentration; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy	Male	Yes	No	Second cousin of patient 253600.2.1.
253600.2.G.1	Lebanon				No	Healthy subjects related to patients with ID 253600.2

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© CAGS 2024. All rights reserved.