Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

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
2021 3
2022 2
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

29 results

Results by year

Filters applied: . Clear all
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. ...The clinical presentation and natural history of cap myopathy is variable and overlaps with other congenital myopath …
BACKGROUND: Cap myopathy is a rare congenital myopathy characterized by cap structures located at the periphery of the muscle …
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.
Thus far, only three cases with TPM3-related cap myopathy have been described. Here, we report on the first autosomal dominant family with cap myopathy in three-generations, caused by a novel heterozygous mutation in the alpha-tropomyosin-slow-encoding …
Thus far, only three cases with TPM3-related cap myopathy have been described. Here, we report on the first autosomal dominant …
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. METHODS: A detailed evaluation was conducted of the clinical, muscle …
BACKGROUND AND PURPOSE: Pathogenic variants in the myopalladin gene (MYPN) are known to cause mildly progressive nemaline/cap myop …
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 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. …
[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 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 …
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': 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 …
29 results