[SCD-FORUM] 115E Female patient, 30 years old. Dr. Towbin

[SCD Symposium]

Probably the most common autosomal dominant form would be due to mutations in lamin A/C (LMNA), the gene responsible for autosomal dominant Emery-Dreifuss muscular dystrophy, the CDDC disorder (Conduction Disease associated with Dilated Cardiomyopathy),and a form of Limb Girdle Muscular Dystrophy, as well as a variety of other disorders (Progeria, Dunnigan lipodystrophy, etc). This is available as a fee-for-service test in a variety labs including our own.

Jeff Towbin,MD