Prelamin-A/C (redirect from LMNA (gene))
Prelamin-A/C, or lamin A/C is a protein that in humans is encoded by the LMNA gene. Lamin A/C belongs to the lamin family of proteins. In the setting of...
24 KB (2,694 words) - 22:56, 9 April 2024
is responsible for causing progeria. The affected gene, known as lamin A (LMNA), makes a protein necessary for holding the cell nucleus together. When this...
59 KB (6,094 words) - 01:57, 25 August 2024
available on genotype-phenotype associations in DCM and mutations in lamin (LMNA), phospholamban (PLN), RNA Binding Motif Protein 20 (RBM20), Cardiac Myosin...
38 KB (3,637 words) - 06:02, 5 June 2024
GCU CUC - 3' Protein: Asn Ser Leu Arg Thr Ala Leu LMNA missense mutation (c.1580G>T) introduced at LMNA gene – position 1580 (nt) in the DNA sequence (CGT)...
7 KB (804 words) - 04:06, 1 April 2024
various types of Emery–Dreifuss muscular dystrophy. Mutation of the EMD or LMNA gene is the cause in 40% of cases. Each gene implicated in EDMD provides...
21 KB (1,627 words) - 14:48, 21 August 2024
dysferlinopathy, facioscapulohumeral muscular dystrophy, dystrophinopathy, and LMNA-associated myopathy. Autoimmune - Autoimmune disease is an abnormal immune...
11 KB (1,020 words) - 05:31, 10 August 2024
dystrophy (CMD) (L-CMD, congenital muscular dystrophy associated to the LMNA gene or Emery-Dreifuss muscular dystrophy II) is a disease that it is included...
5 KB (586 words) - 14:18, 13 December 2023
Puzianowska-Kuznicka M (November 2012). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral...
21 KB (2,523 words) - 08:06, 1 August 2024
brachydactyly This condition is caused by a splice site mutation in the LMNA gene, located in chromosome 1. This mutation is inherited following an autosomal...
8 KB (652 words) - 10:04, 15 May 2023
with classical laminopathy have mutations in the gene coding for lamin A/C (LMNA gene).[citation needed] Mutations in the gene coding for lamin B2 (LMNB2...
32 KB (3,382 words) - 06:42, 20 May 2024