Table 1.

Some of the defects and irregularities caused by the mutations in lamins.

Disease	Lamin Mutations
Emery-Dreifuss muscular dystrophy (EDMD)	X- linked recessive disorder, Emerin (STA) mutation [45] Mutation in Lamin A/C produced by the alternate splicing of LMNA gene [46]
Mandibuloacral dysplasia and partial lipodystrophy	Homozygous missense mutation, Arg527His, in LMNA gene. Muation in ZMPSTE24 [47]
Mandibuloacral dysplasia with type A lipodystrophy (MADA)	Homozygous mutation in R527H in the LMNA gene [48]
Restrictive dermopathy (RD)	Dominant de novo LMNA mutations, recessive ZMPSTE24 [FACE-1 in humans] mutations (either homozygous or heterozygous), both within exon 9 [49] RD with ZMPSTE4 mutation—a complete absence of Lamin A protein—also a factor to identify lethal neonatal laminopathy
Hutchinson- Gilford progeria syndrome (HGPS)	Single point mutation in LMNA gene causing production of permanently farnesylated mutant Lamin A protein, progerin [50] (p. 22) Recurrent de novo single-base substitution within exon 11 of LMNA [51]
Limb Girdle muscular dystrophy type 1B (LGMD1B)	Mutation linked to the chromosome 1q11-q21 of LMNA gene [43]
Dilated cardiomyopathy (DCM)	R89L, 959delT, R337H, S573L mutation in LMNA [52,53]
Autosomal recessive axonal Charcot-Marie-Tooth type 2 (CMT2)	R298C mutation in lamin A/C [54]
Dunnigan type familial partial lipodystrophy (FPLD)	R482Q mutation in lamin A/C, mutation in the gene mapped to chromosome 1q21-22 encoding for the LMNA gene [55]
Adult autosomal dominant leukodystrophy (movement disorder)	Associated with increase or accumulation of lamin B1 [56]
Primary microcephaly (neuro—developmental disorder)	Heterozygous dominant pathogenic variants in both lamin B1 and lamin B2 [57]
Progressive myoclonus epilepsy including the early identification of ataxia	Rare and novel homozygous missense p.His157Tyr mutation in the alpha- helical rod of the lamin B2 protein [58]
Acquired partial lipodystrophy (APL)	Mutation in the LMNB2 gene on 19p13.3 might be the cause of this disease [59]