|
1
|
Yu M, Zheng Y, Jin S, Gang Q, Wang Q, Yu
P, Lv H, Zhang W, Yuan Y and Wang Z: Mutational spectrum of Chinese
LGMD patients by targeted next-generation sequencing. PLoS One.
12(e0175343)2017.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Bouchard C and Tremblay JP: Limb-girdle
muscular dystrophies classification and therapies. J Clin Med.
12(4769)2023.PubMed/NCBI View Article : Google Scholar
|
|
3
|
González JM, Navarro-Puche A, Casar B,
Crespo P and Andrés V: Fast regulation of AP-1 activity through
interaction of lamin A/C, ERK1/2, and c-Fos at the nuclear
envelope. J Cell Biol. 183:653–666. 2008.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Moiseeva O, Bourdeau V, Vernier M,
Dabauvalle MC and Ferbeyre G: Retinoblastoma-independent regulation
of cell proliferation and senescence by the p53-p21 axis in lamin
A/C-depleted cells. Aging Cell. 10:789–797. 2011.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Swift J, Ivanovska IL, Buxboim A, Harada
T, Dingal PC, Pinter J, Pajerowski JD, Spinler KR, Shin JW, Tewari
M, et al: Nuclear lamin-A scales with tissue stiffness and enhances
matrix-directed differentiation. Science.
341(1240104)2013.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Frock RL, Kudlow BA, Evans AM, Jameson SA,
Hauschka SD and Kennedy BK: Lamin A/C and emerin are critical for
skeletal muscle satellite cell differentiation. Genes Dev.
20:486–500. 2006.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Earle AJ, Kirby TJ, Fedorchak GR, Isermann
P, Patel J, Iruvanti S, Moore SA, Bonne G, Wallrath LL and
Lammerding J: Mutant lamins cause nuclear envelope rupture and DNA
damage in skeletal muscle cells. Nat Mater. 19:464–473.
2020.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Maynard S, Keijzers G, Akbari M, Ezra MB,
Hall A, Morevati M, Scheibye-Knudsen M, Gonzalo S, Bartek J and
Bohr VA: Lamin A/C promotes DNA base excision repair. Nucleic Acids
Res. 47:11709–11728. 2019.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Martínez Olorón P, Alegría I, Cesar S, Del
Olmo B, Martínez-Barrios E, Carrera-García L, Natera-de Benito D,
Nascimento A, Campuzano O and Sarquella-Brugada G: Congenital
LMNA-related muscular dystrophy in paediatrics: Cardiac management
in monozygotic twins. Int J Mol Sci. 25(5836)2024.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Shin JY and Worman HJ: Molecular pathology
of laminopathies. Annu Rev Pathol. 17:159–180. 2022.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Szymczak K, Pelletier MGH, Malu K, Barbeau
AM, Giadone RM, Babroudi SC and Gaines PCW: Expression levels of
lamin A or C are critical to nuclear maturation, functional
responses, and gene expression profiles in differentiating mouse
neutrophils. Immunohorizons. 6:16–35. 2022.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Crossley BM, Bai J, Glaser A, Maes R,
Porter E, Killian ML, Clement T and Toohey-Kurth K: Guidelines for
Sanger sequencing and molecular assay monitoring. J Vet Diagn
Invest. 32:767–775. 2020.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Xie Y, Luo J, Zhong J, Liu X, Tang J and
Lan D: Detection of gonosomal mosaicism by ultra-deep sequencing
and droplet digital PCR in patients with Emery-Dreifuss muscular
dystrophy. Mol Genet Genomic Med. 11(e2161)2023.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Richards S, Aziz N, Bale S, Bick D, Das S,
Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al:
Standards and guidelines for the interpretation of sequence
variants: A joint consensus recommendation of the American college
of medical genetics and genomics and the association for molecular
pathology. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Wang S and Peng D: Case series:
LMNA-related dilated cardiomyopathy presents with reginal wall
akinesis and transmural late gadolinium enhancement. ESC Heart
Fail. 7:3179–3183. 2020.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Walsh R, Thomson KL, Ware JS, Funke BH,
Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC,
et al: Reassessment of Mendelian gene pathogenicity using 7,855
cardiomyopathy cases and 60,706 reference samples. Genet Med.
19:192–203. 2017.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Lek M, Karczewski KJ, Minikel EV, Samocha
KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ,
Cummings BB, et al: Analysis of protein-coding genetic variation in
60,706 humans. Nature. 536:285–291. 2016.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Cao Y, Li L, Xu M, Feng Z, Sun X, Lu J, Xu
Y, Du P, Wang T, Hu R, et al: The ChinaMAP analytics of deep whole
genome sequences in 10,588 individuals. Cell Res. 30:717–731.
2020.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Fan Y, Tan D, Song D, Zhang X, Chang X,
Wang Z, Zhang C, Chan SH, Wu Q, Wu L, et al: Clinical spectrum and
genetic variations of LMNA-related muscular dystrophies in a large
cohort of Chinese patients. J Med Genet. 58:326–333.
2021.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Cesar S, Campuzano O, Cruzalegui J, Fiol
V, Moll I, Martínez-Barrios E, Zschaeck I, Natera-de Benito D,
Ortez C, Carrera L, et al: Characterization of cardiac involvement
in children with LMNA-related muscular dystrophy. Front Cell Dev
Biol. 11(1142937)2023.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Ben Yaou R, Yun P, Dabaj I, Norato G,
Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S,
et al: International retrospective natural history study of
LMNA-related congenital muscular dystrophy. Brain Commun.
3(fcab075)2021.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Bertrand AT, Brull A, Azibani F, Benarroch
L, Chikhaoui K, Stewart CL, Medalia O, Ben Yaou R and Bonne G:
Lamin A/C assembly defects in LMNA-congenital muscular dystrophy is
responsible for the increased severity of the disease compared with
Emery-Dreifuss muscular dystrophy. Cells. 9(844)2020.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Mounkes LC, Burke B and Stewart CL: The
A-type lamins: Nuclear structural proteins as a focus for muscular
dystrophy and cardiovascular diseases. Trends Cardiovasc Med.
11:280–285. 2001.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Sienkiewicz D, Kulak W, Okurowska-Zawada
B, Paszko-Patej G and Kawnik K: Duchenne muscular dystrophy:
Current cell therapies. Ther Adv Neurol Disord. 8:166–177.
2015.PubMed/NCBI View Article : Google Scholar
|
|
25
|
Leriche-Guérin K, Anderson LV, Wrogemann
K, Roy B, Goulet M and Tremblay JP: Dysferlin expression after
normal myoblast transplantation in SCID and in SJL mice.
Neuromuscul Disord. 12:167–173. 2002.PubMed/NCBI View Article : Google Scholar
|
|
26
|
Skuk D and Tremblay JP: The process of
engraftment of myogenic cells in skeletal muscles of primates:
Understanding clinical observations and setting directions in cell
transplantation research. Cell Transplant. 26:1763–1779.
2017.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Lee JJA, Maruyama R, Duddy W, Sakurai H
and Yokota T: Identification of novel antisense-mediated exon
skipping targets in DYSF for therapeutic treatment of
dysferlinopathy. Mol Ther Nucleic Acids. 13:596–604.
2018.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Bartoli M, Roudaut C, Martin S,
Fougerousse F, Suel L, Poupiot J, Gicquel E, Noulet F, Danos O and
Richard I: Safety and efficacy of AAV-mediated calpain 3 gene
transfer in a mouse model of limb-girdle muscular dystrophy type
2A. Mol Ther. 13:250–259. 2006.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Roudaut C, Le Roy F, Suel L, Poupiot J,
Charton K, Bartoli M and Richard I: Restriction of calpain3
expression to the skeletal muscle prevents cardiac toxicity and
corrects pathology in a murine model of limb-girdle muscular
dystrophy. Circulation. 128:1094–1104. 2013.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Liu J, Wallace LM, Garwick-Coppens SE,
Sloboda DD, Davis CS, Hakim CH, Hauser MA, Brooks SV, Mendell JR
and Harper SQ: RNAi-mediated gene silencing of mutant myotilin
improves myopathy in LGMD1A mice. Mol Ther Nucleic Acids.
3(e160)2014.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Müthel S, Marg A, Ignak B, Kieshauer J,
Escobar H, Stadelmann C and Spuler S: Cas9-induced single cut
enables highly efficient and template-free repair of a muscular
dystrophy causing founder mutation. Mol Ther Nucleic Acids.
31:494–511. 2023.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Turan S, Farruggio AP, Srifa W, Day JW and
Calos MP: Precise correction of disease mutations in induced
pluripotent stem cells derived from patients with limb girdle
muscular dystrophy. Mol Ther. 24:685–696. 2016.PubMed/NCBI View Article : Google Scholar
|
|
33
|
Heller SA, Shih R, Kalra R and Kang PB:
Emery-Dreifuss muscular dystrophy. Muscle Nerve. 61:436–448.
2020.PubMed/NCBI View Article : Google Scholar
|
|
34
|
Fichna JP, Maruszak A and Żekanowski C:
Myofibrillar myopathy in the genomic context. J Appl Genet.
59:431–439. 2018.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Wang S and Peng D: Cardiac involvement in
Emery-Dreifuss muscular dystrophy and related management
strategies. Int Heart J. 60:12–18. 2019.PubMed/NCBI View Article : Google Scholar
|
|
36
|
Rudenskaya GE, Polyakov AV, Tverskaya SM,
Zaklyazminskaya EV, Chukhrova AL, Groznova OE and Ginter EK:
Laminopathies in Russian families. Clin Genet. 74:127–133.
2008.PubMed/NCBI View Article : Google Scholar
|
|
37
|
Vytopil M, Benedetti S, Ricci E, Galluzzi
G, Dello Russo A, Merlini L, Boriani G, Gallina M, Morandi L,
Politano L, et al: Mutation analysis of the lamin A/C gene (LMNA)
among patients with different cardiomuscular phenotypes. J Med
Genet. 40(e132)2003.PubMed/NCBI View Article : Google Scholar
|
|
38
|
Hasselberg NE, Haland TF, Saberniak J,
Brekke PH, Berge KE, Leren TP, Edvardsen T and Haugaa KH: Lamin A/C
cardiomyopathy: Young onset, high penetrance, and frequent need for
heart transplantation. Eur Heart J. 39:853–860. 2018.PubMed/NCBI View Article : Google Scholar
|
|
39
|
van Tintelen JP, Hofstra RM, Katerberg H,
Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, Wilde AA, van
Langen IM, Nannenberg EA, van der Kooi AJ, et al: High yield of
LMNA mutations in patients with dilated cardiomyopathy and/or
conduction disease referred to cardiogenetics outpatient clinics.
Am Heart J. 154:1130–1139. 2007.PubMed/NCBI View Article : Google Scholar
|
|
40
|
Ben Yaou R, Leturcq F and Bonne G:
Emery-Dreifuss muscular dystrophy. In: GeneReviews®.
Adam MP, Bick S, Mirzaa GM, et al (eds). University of
Washington, Seattle, WA, 1993.
|
|
41
|
Mounkes LC, Kozlov SV, Rottman JN and
Stewart CL: Expression of an LMNA-N195K variant of A-type lamins
results in cardiac conduction defects and death in mice. Hum Mol
Genet. 14:2167–2180. 2005.PubMed/NCBI View Article : Google Scholar
|
|
42
|
Castrichini M, Garmany R, Siontis KC,
Collins JD, Bois JP, Pereira NL, Tester DJ, Gluscevic M, Huynh T,
Neves R, et al: Variant-Specific late gadolinium enhancement
patterns influence clinical outcomes in LMNA-related
cardiomyopathy. J Am Heart Assoc. 14(e041230)2025.PubMed/NCBI View Article : Google Scholar
|
|
43
|
Schmidt HH and Lochs H: Lamin A/C gene
mutation associated with dilated cardiomyopathy with variable
skeletal muscle involvement. Circulation. 103(E20)2001.PubMed/NCBI View Article : Google Scholar
|
