Germline mutations in the LMNA gene encoding lamins A and C have been found in patients with Emery- Dreifuss muscular dystrophy (autosomal dominant, autosomal recessive, and sporadic forms of the disease 1~4 in limb-girdle muscular dystrophy (Type 1B) 5, in Charcot-Marie-Tooth disorder type 2 6, and in Dunnigan type familial partial lipodystrophy 7. Mutations in the LMNA gene have also been detected in patients with Hutchinson-Gilford progeria syndrome 8, 9, atypical Werner syndrome10, and mandibuloacral dysplasia. Mutations in this gene also have been reported to cause familial dilated cardiomyopathy, a genetically heterogeneous disease caused by perhaps as many as eleven different genes, only a few of which have been identified 11, 12. Identification of lamin A/C gene mutations in patients with any of these diseases may permit identification of carriers as well as individuals who are at high risk for dilated cardiomyopathy in these families.
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Lamin A/C (LMNA) Gene Mutation Analysis Assay Summary
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