PubMed for id: 1622297

Year	Number of Results
2008	1
2009	1
2010	1
2011	1
2012	2
2014	1
2015	2
2016	1
2017	1
2018	2
2020	1
2024	0

1

A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels.

Olby NJ, Friedenberg S, Meurs K, DeProspero D, Guevar J, Lau J, Yost O, Guo LT, Shelton GD. Olby NJ, et al. Neuromuscul Disord. 2020 May;30(5):353-359. doi: 10.1016/j.nmd.2020.02.021. Epub 2020 Mar 5. Neuromuscul Disord. 2020. PMID: 32417001 Free PMC article.

2

New variant of necklace fibres display peculiar lysosomal structures and mitophagy.

Rinnenthal JL, Dittmayer C, Irlbacher K, Wacker I, Schröder R, Goebel HH, Butori C, Villa L, Sacconi S, Stenzel W. Rinnenthal JL, et al. Neuromuscul Disord. 2018 Oct;28(10):846-856. doi: 10.1016/j.nmd.2018.06.010. Epub 2018 Jul 2. Neuromuscul Disord. 2018. PMID: 30149909

3

Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers.

Felice KJ, Whitaker CH, Wu Q. Felice KJ, et al. Neuromuscul Disord. 2018 Apr;28(4):339-345. doi: 10.1016/j.nmd.2018.02.002. Epub 2018 Feb 8. Neuromuscul Disord. 2018. PMID: 29567349 Review.

4

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

Biancalana V, Scheidecker S, Miguet M, Laquerrière A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Küsters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B, Laporte J. Biancalana V, et al. Acta Neuropathol. 2017 Dec;134(6):889-904. doi: 10.1007/s00401-017-1748-0. Epub 2017 Jul 6. Acta Neuropathol. 2017. PMID: 28685322

5

A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.

Abath Neto O, Silva MR, Martins Cde A, Oliveira Ade S, Reed UC, Biancalana V, Pesquero JB, Laporte J, Zanoteli E. Abath Neto O, et al. Pediatr Neurol. 2016 May;58:107-12. doi: 10.1016/j.pediatrneurol.2016.01.023. Epub 2016 Feb 6. Pediatr Neurol. 2016. PMID: 26995067

6

A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres.

Casar-Borota O, Jacobsson J, Libelius R, Oldfors CH, Malfatti E, Romero NB, Oldfors A. Casar-Borota O, et al. Neuromuscul Disord. 2015 Apr;25(4):345-8. doi: 10.1016/j.nmd.2015.01.001. Epub 2015 Jan 13. Neuromuscul Disord. 2015. PMID: 25633151

7

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I. Uruha A, et al. J Neurol Neurosurg Psychiatry. 2015 May;86(5):483-9. doi: 10.1136/jnnp-2014-309009. Epub 2014 Sep 24. J Neurol Neurosurg Psychiatry. 2015. PMID: 25253871

8

Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy.

Gurgel-Giannetti J, Zanoteli E, de Castro Concentino EL, Abath Neto O, Pesquero JB, Reed UC, Vainzof M. Gurgel-Giannetti J, et al. Neuromuscul Disord. 2012 Jun;22(6):541-5. doi: 10.1016/j.nmd.2011.12.005. Epub 2012 Jan 20. Neuromuscul Disord. 2012. PMID: 22264517

9

Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.

Hedberg C, Lindberg C, Máthé G, Moslemi AR, Oldfors A. Hedberg C, et al. Neuromuscul Disord. 2012 Mar;22(3):244-51. doi: 10.1016/j.nmd.2011.10.010. Epub 2011 Nov 18. Neuromuscul Disord. 2012. PMID: 22101172

10

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.

Liewluck T, Lovell TL, Bite AV, Engel AG. Liewluck T, et al. Neuromuscul Disord. 2010 Dec;20(12):801-4. doi: 10.1016/j.nmd.2010.07.273. Neuromuscul Disord. 2010. PMID: 20817456 Free PMC article.

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