Mutations in the laminA/C gene (LMNA) cause the health conditions discussed in this NIH fact sheet:
- Charcot-Marie-Tooth disease
- Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B
- familial dilated cardiomyopathy with conduction defects
- Hutchinson-Gilford progeria
- atypical Werner syndrome
The variant in the LMNA gene identified in Kim Goodsell's case (arythmia and Charcot Marie Tooth 2, presented by cardiologist and geneticist Dr Topol at the Future of Genomic Medicine Conference 2014) is known as Met384Ile, and it has now been designated as rs587777892. She self diagnosed the connection to LMNA using a genetic screen and has devised a successful treatment plan consisting of unprocessed foods, free of sugar, gluten and nightshades. "She added certain fats she had previously avoided, such as omega-3 fatty acids and nuts, which are rich in fats."