CMT 2 Testing now at City of Hope Los Angeles

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http://www.cityofhope.org/mdl/services/Pages/LaminAC.aspx

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 in limb-girdle muscular dystrophy

(Type 1B), in Charcot-Marie-Tooth disorder type 2, and in Dunnigan type familial

partial lipodystrophy7.

Mutations in the LMNA gene have also been detected in patients with

Hutchinson-Gilford progeria syndrome, 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.

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.