Patients with classical<unk>  have mutations in the gene coding for lamin A/C (LMNA gene). Mutations in the gene coding for lamin B2 (LMNB2 gene) have been linked to Barraquer-Simons syndrome and duplication in the gene coding for lamin B1 (LMNB1 gene) cause autosomal dominant leukodystrophy. Mutations implicated in other nuclear envelopathies were found in genes coding for lamin-binding proteins such as lamin B receptor (LBR gene), emerin (EMD gene) and LEM domain-containing protein 3 (LEMD3 gene) and prelamin A-processing enzymes such as the zinc metalloproteinase STE24 (ZMPSTE24 gene). Mutations causing<unk> es include recessive as well as dominant alleles with rare de novo mutations creating dominant alleles that do not allow their carriers to reproduce before death. The nuclear envelopathy with the highest frequency in human populations is Emery–Dreifuss muscular dystrophy caused by an X-linked mutation in the EMD gene coding for emerin and affecting an estimated 1 in 100,000 people.
Laminopathy
Myopathy
Myelopathy
Osteopathy
Osteodystrophy
Arthropathy
Lipotoxicity
Osteopenia