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Congenital Myopathies in the Adult Neuromuscular Clinic: Diagnostic Challenges and Pitfalls E341

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Congenital Myopathies in the Adult Neuromuscular Clinic: Diagnostic Challenges and Pitfalls E341 Volume 5, Number 4, August 2019 Neurology.org/NG A peer-reviewed clinical and translational neurology open access journal ARTICLE Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls e341 ARTICLE Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy e339 ARTICLE Genetic risk of Parkinson disease and progression: An analysis of 13 longitudinal cohorts e348 ARTICLE Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease e342 TABLE OF CONTENTS Volume 5, Number 4, August 2019 Neurology.org/NG e344 Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series M. Andr´easson, K. Lagerstedt-Robinson, K. Samuelsson, G. Solders, K. Blennow, M. Paucar, and P. Svenningsson Open Access e347 MAPT p.V363I mutation: A rare cause of corticobasal degeneration S. Ahmed, M.D. Fairen, M.S. Sabir, P. Pastor, J. Ding, L. Ispierto, A. Butala, C.M. Morris, C. Schulte, T. Gasser, E. Jabbari, O. Pletnikova, H.R. Morris, J. Troncoso, E. Gelpi, A. Pantelyat, and S.W. Scholz Open Access e345 Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features A. Ziaei, X. Xu, L. Dehghani, C. Bonnard, A. Zellner, A.Y. Jin Ng, S. Tohari, B. Venkatesh, C. Haffner, B. Reversade, V. Shaygannejad, and M.A. Pouladi Open Access e348 Genetic risk of Parkinson disease and progression: An analysis of 13 longitudinal cohorts H. Iwaki, C. Blauwendraat, H.L. Leonard, G. Liu, J. Maple-Grødem, J.-C. Corvol, L. Pihlstrøm, M. van Nimwegen, S.J. Hutten, K.-D.H. Nguyen, J. Rick, S. Eberly, F. Faghri, P. Auinger, K.M. Scott, R. Wijeyekoon, V.M. Van Deerlin, D.G. Hernandez, A.G. Day-Williams, A. Brice, G. Alves, A.J. Noyce, O.-B. Tysnes, J.R. Evans, D.P. Breen, K. Estrada, C.E. Wegel, F. Danjou, D.K. Simon, B. Ravina, M. Toft, Articles P. Heutink, B.R. Bloem, D. Weintraub, R.A. Barker, C.H. Williams-Gray, B.P. van de Warrenburg, J.J. Van Hilten, C.R. Scherzer, A.B. Singleton, and e339 Systematic review and meta-analysis of cardiac M.A. Nalls involvement in mitochondrial myopathy Open Access A. Quadir, C.S. Pontifex, H. Lee Robertson, C. Labos, and G. Pfeffer Open Access e349 New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy e340 Human GABRG2 generalized epilepsy: Increased S. Al-Tahan, L. Weiss, H. Yu, S. Tang, M. Saporta, A. Vihola, somatosensory and striatothalamic connectivity T. Mozaffar, B. Udd, and V. Kimonis M. Pedersen, M. Kowalczyk, A. Omidvarnia, P. Perucca, S. Gooley, Open Access S. Petrou, I.E. Scheffer, S.F. Berkovic, and G.D. Jackson Open Access Clinical/Scientific Notes e341 Congenital myopathies in the adult neuromuscular e343 Missense mutations in DYT-TOR1A clinic: Diagnostic challenges and pitfalls dystonia S. Nicolau, T. Liewluck, J.A. Tracy, R.S. Laughlin, and M. Milone Z. Iqbal, J. Koht, L. Pihlstrøm, S.P. Henriksen, C. Cappelletti, M.B. Russel, O. Norberto de Souza, I.M. Skogseid, and M. Toft Open Access Open Access e342 Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease e346 Adult-onset variant ataxia-telangiectasia J.I. Young, S.K. Sivasankaran, L. Wang, A. Ali, A. Mehta, D.A. Davis, diagnosed by exome and cDNA sequencing D.M. Dykxhoorn, C.K. Petito, G.W. Beecham, E.R. Martin, D.C. Mash, M. Krenn, I. Milenkovic, G. Eckstein, F. Zimprich, T. Meitinger, M. Pericak-Vance, W.K. Scott, T.J. Montine, and J.M. Vance T. Foki, and M. Wagner Open Access Open Access Video TABLE OF CONTENTS Volume 5, Number 4, August 2019 Neurology.org/NG Corrections e350 Missense mutations in DYT-TOR1A dystonia e354 Genetic risk of Parkinson disease and progression: An analysis of 13 longitudinal cohorts e355 Genome-wide Brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson Cover image disease Protein sequencing of the HSPB8 gene. The mRNA that results from this mutation has five splice variants with size ranging from 27 to 244 aa. Only the first three contain an α-crystallin domain and are coding. See e349 Academy Officers Neurology® is a registered trademark of the American Academy of Neurology (registration valid in the United States). James C. Stevens, MD, FAAN, President Neurology® Genetics (eISSN 2376-7839) is an open access journal published Orly Avitzur, MD, MBA, FAAN, President Elect online for the American Academy of Neurology, 201 Chicago Avenue, Ann H. 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