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Core-rod Myopathy Due to a Novel Mutation in BTB/POZ Domain of KBTBD13 Manifesting As Late Onset LGMD

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References
1.
Baker N, Sept D, Joseph S, Holst M, McCammon J . Electrostatics of nanosystems: application to microtubules and the ribosome. Proc Natl Acad Sci U S A. 2001; 98(18):10037-41. PMC: 56910. DOI: 10.1073/pnas.181342398. View

2.
Arnold K, Bordoli L, Kopp J, Schwede T . The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics. 2005; 22(2):195-201. DOI: 10.1093/bioinformatics/bti770. View

3.
Oldfors A . Hereditary myosin myopathies. Neuromuscul Disord. 2007; 17(5):355-67. DOI: 10.1016/j.nmd.2007.02.008. View

4.
Olive M, Goldfarb L, Lee H, Odgerel Z, Blokhin A, Gonzalez-Mera L . Nemaline myopathy type 6: clinical and myopathological features. Muscle Nerve. 2010; 42(6):901-7. PMC: 3057880. DOI: 10.1002/mus.21788. View

5.
Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C . Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. Nat Rev Neurol. 2018; 14(3):151-167. DOI: 10.1038/nrneurol.2017.191. View