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Year Number of Results
2006 1
2007 2
2009 2
2010 2
2012 1
2013 4
2014 4
2015 1
2017 2
2018 3
2019 3
2020 3
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2022 2
2024 0

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29 results

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Page 1
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.
Piteau SJ, Rossiter JP, Smith RG, MacKenzie JJ. Piteau SJ, et al. Pediatr Neurol. 2014 Aug;51(2):192-7. doi: 10.1016/j.pediatrneurol.2014.04.002. Epub 2014 Apr 12. Pediatr Neurol. 2014. PMID: 25079567 Review.
BACKGROUND: Cap myopathy is a rare congenital myopathy characterized by cap structures located at the periphery of the muscle fiber. ...METHODS: We describe a 10-year-old boy with cap myopathy and contrast him with 20 other individuals reported in the …
BACKGROUND: Cap myopathy is a rare congenital myopathy characterized by cap structures located at the periphery of the muscle …
Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review.
Polavarapu K, Bardhan M, Anjanappa RM, Vengalil S, Preethish-Kumar V, Shingavi L, Chawla T, Nashi S, Mohan D, Arunachal G, Geetha TS, Ramprasad V, Nalini A. Polavarapu K, et al. J Clin Neurol. 2021 Jul;17(3):409-418. doi: 10.3988/jcn.2021.17.3.409. J Clin Neurol. 2021. PMID: 34184449 Free PMC article.
BACKGROUND AND PURPOSE: Pathogenic variants in the myopalladin gene (MYPN) are known to cause mildly progressive nemaline/cap myopathy. Only nine cases have been reported in the English literature. ...The clinical phenotype reiterates the mild form of nemaline rod/ …
BACKGROUND AND PURPOSE: Pathogenic variants in the myopalladin gene (MYPN) are known to cause mildly progressive nemaline/cap myop …
Novel TPM3 mutation in a family with cap myopathy and review of the literature.
Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG. Schreckenbach T, et al. Neuromuscul Disord. 2014 Feb;24(2):117-24. doi: 10.1016/j.nmd.2013.10.002. Epub 2013 Oct 23. Neuromuscul Disord. 2014. PMID: 24239060 Review.
Cap myopathy is a rare congenital myopathy characterized by the presence of caps within muscle fibres and caused by mutations in ACTA1, TPM2 or TPM3. Thus far, only three cases with TPM3-related cap myopathy have been described. Here, we report on the …
Cap myopathy is a rare congenital myopathy characterized by the presence of caps within muscle fibres and caused by mutations …
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Lornage X, Malfatti E, Chéraud C, Schneider R, Biancalana V, Cuisset JM, Garibaldi M, Eymard B, Fardeau M, Boland A, Deleuze JF, Thompson J, Carlier RY, Böhm J, Romero NB, Laporte J. Lornage X, et al. Ann Neurol. 2017 Mar;81(3):467-473. doi: 10.1002/ana.24900. Epub 2017 Mar 20. Ann Neurol. 2017. PMID: 28220527
We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. MYPN encodes the Z-line protein myopalladin implicated in sarcomere integrity. ...
We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. …
'Cap myopathy': case report of a family.
Cuisset JM, Maurage CA, Pellissier JF, Barois A, Urtizberea JA, Laing N, Tajsharghi H, Vallée L. Cuisset JM, et al. Neuromuscul Disord. 2006 Apr;16(4):277-81. doi: 10.1016/j.nmd.2006.01.014. Epub 2006 Mar 13. Neuromuscul Disord. 2006. PMID: 16531045
A muscle biopsy performed on both siblings revealed histological and ultrastructural features of 'cap myopathy'. This case report suggests that 'cap myopathy' and some cases of nemaline myopathy with neonatal onset might be two phenotypic expressions o …
A muscle biopsy performed on both siblings revealed histological and ultrastructural features of 'cap myopathy'. This case rep …
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.
Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J. Hung RM, et al. Neuromuscul Disord. 2010 Apr;20(4):238-40. doi: 10.1016/j.nmd.2010.01.011. Epub 2010 Mar 19. Neuromuscul Disord. 2010. PMID: 20303757
Cap myopathy is a congenital myopathy with cap-like structures under the sarcolemma. Mutations in TPM2 and TPM3 genes have been reported in cap myopathy so far. We report a newborn boy with persistent profound weakness who required gastro-jejunal tube …
Cap myopathy is a congenital myopathy with cap-like structures under the sarcolemma. Mutations in TPM2 and TPM3 genes have bee …
Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.
Kiiski KJ, Lehtokari VL, Vihola AK, Laitila JM, Huovinen S, Sagath LJ, Evilä AE, Paetau AE, Sewry CA, Hackman PB, Pelin KB, Wallgren-Pettersson C, Udd B. Kiiski KJ, et al. Neuromuscul Disord. 2019 Feb;29(2):97-107. doi: 10.1016/j.nmd.2018.12.007. Epub 2018 Dec 20. Neuromuscul Disord. 2019. PMID: 30679003
This 100 kb in-frame deletion encompasses NEB exons 14-89, causing distal nemaline/cap myopathy in a three-generation family. It is the largest deletion characterized in NEB hitherto. ...
This 100 kb in-frame deletion encompasses NEB exons 14-89, causing distal nemaline/cap myopathy in a three-generation family. …
A TPM3 mutation causing cap myopathy.
De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J. De Paula AM, et al. Neuromuscul Disord. 2009 Oct;19(10):685-8. doi: 10.1016/j.nmd.2009.06.365. Epub 2009 Jun 23. Neuromuscul Disord. 2009. PMID: 19553118
[Cap myopathy: a case report].
Muñoz-Jareño N, López-Martínez A, Martín Fernández-Mayoralas D, Meizoso-Latova T, Cabello A. Muñoz-Jareño N, et al. Rev Neurol. 2007 Dec 1-15;45(11):669-71. Rev Neurol. 2007. PMID: 18050099 Free article. Spanish.
AIM: To report a new case of a little-known congenital myopathy. Cap myopathy is a rare congenital disease caused by an alteration in the structure of the fibre, with disorganised myofibrils at the edges. ...These alterations are similar to those described in what i …
AIM: To report a new case of a little-known congenital myopathy. Cap myopathy is a rare congenital disease caused by an altera …
29 results