Genetics of Muscle Diseases

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

June 1, 2023. American Journal of Human Genetics, 110(6), 989-997. https://doi.org/10.1016/j.ajhg.2023.04.006

J.A. Morales-Rosado, T.L. Schwab, S.K. Macklin-Mantia, A.R. Foley, F.P. Vairo, D. Pehlivan, S. Donkervoort, J.A. Rosenfeld, G.E. Boyum, Y. Hu, A.T.Q. Cong, T.E. Lotze, C.A. Mohila, D. Saade, D. Bharucha-Goebel, K.R. Chao, C. Grunseich, C.C. Bruels, H.R. Littel, E.A. Estrella, L. Pais, P.B. Kang, M.T. Zimmermann, J.R. Lupski, B. Lee, M.J. Schellenberg, K.J. Clark, K.J. Wierenga, C.G. Bönnemann, E.W. Klee

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

February 17, 2023. Acta Neuropathologica, 145(4), 479-496. https://doi.org/10.1007/s00401-023-02551-7

A. Nascimento, C.C. Bruels, S. Donkervoort, A.R. Foley, A. Codina, J.C. Milisenda, E.A. Estrella, C. Li, J. Pijuan, I. Draper, Y. Hu, S.A. Stafki, L.S. Pais, V.S. Ganesh, A. O’Donnell-Luria, S.B. Syeda, L. Carrera-García, J. Expósito-Escudero, D. Yubero, L. Martorell, I. Pinal-Fernandez, H.G.W. Lidov, A.L. Mammen, J.M. Grau-Junyent, C. Ortez, F. Palau, P.S. Ghosh, B.T. Darras, C. Jou, L.M. Kunkel, J. Hoenicka, C.G. Bönnemann, P.B. Kang, D. Natera-de Benito.

Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy

June 23, 2022. Annals of Clinical and Translational Neurology, 9(8), 1302-1309. https://doi.org/10.1002/acn3.51612

C.C. Bruels, H.R. Littel, A.L. Daugherty, S. Stafki, E.A. Estrella, E.S. McGaughy, D. Truong, J.P. Badalamenti, L. Pais, V.S. Ganesh, A. O'Donnell-Luria, H.J. Stalker, Y. Wang, C. Collins, A. Behlmann, R.J.L.F. Lemmers, S.M. van der Maarel, R. Laine, P.S. Ghosh, B.T. Darras, C.D. Zingariello, C.A. Pacak, L.M. Kunkel, P.B. Kang.

A form of muscular dystrophy associated with pathogenic variants in JAG2

May 6, 2021. American Journal of Human Genetics, 108(5), 840-856. https://doi.org/10.1016/j.ajhg.2021.03.020

S. Coppens, A.M. Barnard, S. Puusepp, S. Pajusalu, K. Õunap, D. Vargas-Franco, C.C Bruels, S. Donkervoort, L. Pais, K.R. Chao, J.K. Goodrich, E.M. England, B. Weisburd, V.S. Ganesh, S. Gudmundsson, A. O'Donnell-Luria, M. Nigul, P. Ilves, P. Mohassel, T. Siddique, M. Milone, S. Nicolau, R. Maroofian, H. Houlden, M.G. Hanna, R. Quinlivan, M.B. Toosi, E.G. Karimiani, S. Costagliola, N. Deconinck, H. Kadhim, E. Macke, B.C. Lanpher, E.W. Klee, A. Łusakowska, A. Kostera-Pruszczyk, A. Hahn, B. Schrank, I. Nishino, M. Ogasawara, R.E. Sherif, T. Stojkovic, I. Nelson, G. Bonne, E. Cohen, A. Boland-Augé, J. Deleuze, Y. Meng, A. Töpf, C. Vilain, C.A. Pacak, M.L. Rivera-Zengotita, C.G. Bönnemann, V. Straub, P.A. Handford, I. Draper, G.A. Walter, P.B. Kang

POLRMT mutations impair mitochondrial transcription causing neurological disease

February 18, 2021. Nature communications, 12(1), 1135. https://doi.org/10.1038/s41467-021-21279-0

M. Oláhová, B. Peter, Z. Szilagyi, H. Diaz-Maldonado, M. Singh, E.W. Sommerville, E.L. Blakely, J.J. Collier, E. Hoberg, V. Stránecký, H. Hartmannová, A.J. Bleyer, K.L. McBride, S.A. Bowden, Z. Korandová, A. Pecinová, H.H. Ropers, K. Kahrizi, H. Najmabadi, M.A. Tarnopolsky, L.I. Brady, K.N. Weaver, C.E. Prada, K. Õunap, M.H. Wojcik, S. Pajusalu, S.B. Syeda, L. Pais, E.A. Estrella, C.C. Bruels, L.M. Kunkel, P.B. Kang, P.E. Bonnen, T. Mráček, S. Kmoch, G.S. Gorman, M. Falkenberg, C.M. Gustafsson, R.W. Taylor

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites

January 28, 2019. Molecular genetics & genomic medicine. https://doi.org/10.1002/mgg3.552

C.C. Bruels, C. Li, T. Mendoza, J.Khan, H.M. Reddy, E.A. Estrella, P.S. Ghosh, B.T. Darras, H.G.W. Lidov, C.A. Pacak, L.M. Kunkel, F. Modave, I. Draper, P.B. Kang

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan

October 22, 2018. Physiological genomics, 50(11), 929-939. https://doi.org/10.1152/physiolgenomics.00036.2018

M. Saha, H.M. Reddy, M.A. Salih, E. Estrella, M.D. Jones, S. Mitsuhashi, K.A. Cho, S. Suzuki-Hatano, S.A. Rizzo, M.H. Hamad, M.M. Mukhtar, A.A. Hamed, M.A. Elseed, M. Lek, E. Valkanas, D.G. Macarthur, L.M. Kunkel, C.A. Pacak, I. Draper, P.B. Kang

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

February 1, 2017. Journal of Human Genetics, 62(2), 243-252. https://doi.org/10.1038/jhg.2016.116

H.M. Reddy, K.A. Cho, M. Lek, E. Estrella, E. Valkanas, M.D. Jones, S. Mitsuhashi, B.T. Darras, A.A. Amato, H.G.W. Lidov, C.A. Brownstein, D.M. Margulies, T. W. Yu, M.A. Salih, L.M. Kunkel, D.G. Macarthur, P.B. Kang

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt

October 1, 2016. Muscle and Nerve, 54(4), 690-695. https://doi.org/10.1002/mus.25094

H.M. Reddy, S.A. Hamed, M. Lek, S. Mitsuhashi, E. Estrella, M.D. Jones, L.J. Mahoney, A.R. Duncan, K.A. Cho, D.G. Macarthur, L.M. Kunkel, P.B. Kang

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2

December 2013. Neuromuscular Disorders, 23(12), 975-980. https://doi.org/10.1016/j.nmd.2013.08.009

S. Mitsuhashi, S.E. Boyden, E.A. Estrella, T.I. Jones, F. Rahimov, T.W. Yu, B.T. Darras, A.A. Amato, R.D. Folkerth, P.L. Jones, L.M. Kunkel, P.B. Kang

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

February 28, 2012. Neurogenetics, 13(2), 115-124. https://doi.org/10.1007/s10048-012-0315-z

S.E. Boyden, L.J. Mahoney, G. Kawahara, J.A. Myers, S. Mitsuhashi, E.A. Estrella, A.R. Duncan, F. Dey, E.T. DeChene, J.M. Blasko-Goehringer, C.G. Bönnemann, B.T. Darras, J.R. Mendell, H.G.W. Lidov, I. Nishino, A.H. Beggs, L.M. Kunkel, P.B. Kang

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

June 28, 2011. BMC medical genetics, 12, Article 87. https://doi.org/10.1186/1471-2350-12-87

S.E. Boyden, A.R. Duncan, E.A. Estrella, H.G.W. Lidov, L.J. Mahoney, J.S. Katz, L.M. Kunkel, P.B. Kang