nuclear membrane proteins
nuclear envelope proteins
Members
emerin
lamin A/C (lamin A and C are alternatively spliced variants of the same gene)
Pathology (nuclear envelopathies)
emerin deficiency results in X-linked Emery-Dreifuss muscular dystrophy (EDMD).
lamin A/C mutations cause
- autosomal-dominant form of EDMD
- limb-girdle muscular dystrophy with atrioventricular conduction disturbances (type 1B)
- hypertrophic cardiomyopathy and Dunnigan-type familial partial lipodystrophy
- progeria
See also