Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Yuen, Michaela; Sandaradura, Sarah A.; Dowling, James J.; Kostyukova, Alla S.; Moroz, Natalia; Quinlan, Kate; Lehtokari, Vilma-Lotta; Ravenscroft, Gianina; Todd, Emily J.; Ceyhan‐Birsoy, Ozge; Gokhin, David S.; Maluenda, Jérôme; Lek, Monkol; Nolent, Flora; Pappas, Christopher T.; Novak, Stefanie M.; D’Amico, Adele; Malfatti, Edoardo; Thomas, Brett; Gabriel, Stacey; Gupta, Namrata; Daly, Mark J.; Ilkovski, Biljana; Houweling, Peter J.; Davidson, Ann E.; Swanson, Lindsay C.; Brownstein, Catherine A.; Gupta, Vandana; Medne, Līvija; Shannon, Patrick; Martin, Nicole; Bick, David; Flisberg, Anders; Holmberg, Eva; Bergh, Peter Van den; Lapunzina, Pablo; Waddell, Leigh B.; Sloboda, Darcée D.; Bertini, E.; Chitayat, David; Telfer, William R.; Laquerrière, Annie; Gregorio, Carol C.; Ottenheijm, Coen A.C.; Bönnemann, Carsten G.; Pelin, Katarina; Beggs, Alan H.; Hayashi, Yukiko; Romero, Norma B.; Laing, Nigel G.; Nishino, Ichizo; Wallgren‐Pettersson, Carina; Melki, Judith; Fowler, Velia M.; MacArthur, Daniel G.; North, Klaus; Clarke, Nigel F.

doi:10.1172/jci80057

Cited by 38 publications

(37 citation statements)

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“…1 So far, mutations in 12 different genes have been reported to cause autosomal dominant (AD) or autosomal recessive (AR) forms of NM. [2][3][4][5][6][7][8][9][10][11][12][13][14] Cofilin-2 is a widely expressed member of the AC group of proteins that regulate actin-filament dynamics. 15 It binds to and depolymerizes filamentous F-actin, and negatively controls polymerization of monomeric G-actin in a pH-dependent manner.…”

Section: Introductionmentioning

confidence: 99%

Expanding the histopathological spectrum of CFL2‐related myopathies

et al. 2018

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Congenital myopathies (CMs) caused by mutation in cofilin-2 gene (CFL2) show phenotypic heterogeneity ranging from early-onset and rapid progressive forms to milder myopathy. Muscle histology is also heterogeneous showing rods and/or myofibrillar changes. Here, we report on three new cases, from two unrelated families, of severe CM related to novel homozygous or compound heterozygous loss-of-function mutations in CFL2. Peculiar histopathological changes showed nemaline bodies and thin filaments accumulations together to myofibrillar changes, which were evocative of the muscle findings observed in Cfl2 knockout mouse model.

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Section: Introductionmentioning

confidence: 99%

Expanding the histopathological spectrum of CFL2‐related myopathies

et al. 2018

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“…For example nemaline rods can be associated with defects in ACTA1, NEB, CFL2, TPM2, TPM3, TNNT1, RYR1, 3 members of the Kelch family and LMOD3 [6][7][8]. ACTA1 mutations are associated with several structural defects that include nemaline rods (nuclear and/or cytoplasmic), accumulation of actin, cores, caps, fibre type disproportion and also with similarities to a myofibrillar myopathy [9].…”

Section: Discussionmentioning

confidence: 99%

Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1)

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Holton

Dick

et al. 2015

Neuromuscular Disorders

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“…Exome sequencing without associated linkage analysis was used to identify 12 new myopathy-causing genes: DPAGT1 [34], SMCHD1 [35], STIM1 [18], B3GALNT2 [36], PIEZO2 [37], GMPPB [38], LRP4 [39], RBCK1 [40], ORAI1 [41], COL12A1 [42], SPEG [43] and LMOD3 [44]. In most of the cases, several patients and families were available for exome sequencing, allowing identification of variants in the same gene in affected individuals from different families.…”

Section: Discovery Of Novel Genes Implicated In Myopathies Using Massmentioning

confidence: 99%