Mutations in the one of several genes cause the various types of<unk> . Mutation of the EMD or LMNA gene is the cause in 40% of cases. Each gene implicated in EDMD provides instructions for making a protein that is associated with the nuclear envelope, which surrounds the nucleus of a cell. The nuclear envelope regulates the movement of molecules into and out of the nucleus, and researchers believe it may play a role in regulating the activity of certain genes. Type OMIM Gene Protein Inheritance Description EDMD1 EMD<unk> n XLR<unk> n is a transmembrane protein of the inner nuclear membrane which appears to be essential for the normal function of skeletal and cardiac muscle. Most EMD mutations prevent the production of any functional<unk> n. EDMD2 LMNA lamin A and lamin C AD EDMD-causing mutations of LMNA result in the production of an altered version of their encoded proteins. EDMD3 AR EDMD4 SYNE1 nesprin-1 AD Muscle cells indicate loss of nuclear envelope consistency. Cerebellar ataxia occurs at approximately 30 years of age. EDMD5 SYNE2 nesprin-2 AD In SYNE2 we see a transition in said gene, that results in T89M as a result of a substitution. Via fluorescent in-situ hybridization the gene is located at chromosome 14q23 EDMD6 FHL1 four and a half LIM domains 1 (FHL1) XLR FHL1 is located at the sarcomere and sarcolemma, unlike the rest of the proteins implicated in EDMD. It is involved in sarcomere assembly. EDMD7 TMEM43 transmembrane protein 43 (LUMA) AD LUMA binds to<unk> n and LMNA, and interacts with SUN2. It is involved with nuclear membrane structural organization and maintenance of shape, and deficiency of it causes abnormally shaped nuclei. XLR = X-linked recessive; AD = autosomal dominant; AR = autosomal recessive Mutations of the genes SUN1 and SUN2 have each been shown to cause EDMD in single cases. TTN has also been associated with EDMD phenotype. File:Protein LMNA PDB 1ifr.Protein LMNA File:Protein EMD PDB 1jei.Protein EMD File:Protein FHL1 PDB 1x63.Protein FHL1
Emery–Dreifuss muscular dystrophy
Limb–girdle muscular dystrophy
Fukuyama congenital muscular dystrophy
Ullrich congenital muscular dystrophy
X-linked spinal muscular atrophy type 2
Jokela type spinal muscular atrophy
Thiel–Behnke dystrophy
Danon disease