Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Camila Xu + 529 word(s) 529 2020-12-15 07:26:42

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Xu, C. HMERF. Encyclopedia. Available online: https://encyclopedia.pub/entry/4079 (accessed on 26 September 2026).
Xu C. HMERF. Encyclopedia. Available at: https://encyclopedia.pub/entry/4079. Accessed September 26, 2026.
Xu, Camila. "HMERF" Encyclopedia, https://encyclopedia.pub/entry/4079 (accessed September 26, 2026).
Xu, C. (2020, December 23). HMERF. In Encyclopedia. https://encyclopedia.pub/entry/4079
Xu, Camila. "HMERF." Encyclopedia. Web. 23 December, 2020.

Hereditary myopathy with early respiratory failure (HMERF) is an inherited disease that affects muscles used for movement (skeletal muscles) and muscles that are needed for breathing (respiratory muscles).

genetic conditions

References

  1. Hedberg C, Toledo AG, Gustafsson CM, Larson G, Oldfors A, Macao B. Hereditary myopathy with early respiratory failure is associated with misfolding of thetitin fibronectin III 119 subdomain. Neuromuscul Disord. 2014 May;24(5):373-9.doi: 10.1016/j.nmd.2014.02.003.
  2. Palmio J, Evilä A, Chapon F, Tasca G, Xiang F, Brådvik B, Eymard B,Echaniz-Laguna A, Laporte J, Kärppä M, Mahjneh I, Quinlivan R, Laforêt P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Gölitz P,Chevessier F, Sewry C, Norwood F, Hedberg C, Schröder R, Edström L, Oldfors A,Hackman P, Udd B. Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):345-53.doi: 10.1136/jnnp-2013-304965.
  3. Tasca G, Mirabella M, Broccolini A, Monforte M, Sabatelli M, Biscione GL,Piluso G, Gualandi F, Tonali PA, Udd B, Ricci E. An Italian case of hereditarymyopathy with early respiratory failure (HMERF) not associated with the titinkinase domain R279W mutation. Neuromuscul Disord. 2010 Nov;20(11):730-4. doi:10.1016/j.nmd.2010.07.269.
  4. Tasca G, Udd B. Hereditary myopathy with early respiratory failure (HMERF):Still rare, but common enough. Neuromuscul Disord. 2018 Mar;28(3):268-276. doi:10.1016/j.nmd.2017.12.002.
  5. Toro C, Olivé M, Dalakas MC, Sivakumar K, Bilbao JM, Tyndel F, Vidal N,Farrero E, Sambuughin N, Goldfarb LG. Exome sequencing identifies titin mutationscausing hereditary myopathy with early respiratory failure (HMERF) in families ofdiverse ethnic origins. BMC Neurol. 2013 Mar 20;13:29. doi:10.1186/1471-2377-13-29.
  6. 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. Necklace cytoplasmic bodies in hereditary myopathy with early respiratoryfailure. J Neurol Neurosurg Psychiatry. 2015 May;86(5):483-9. doi:10.1136/jnnp-2014-309009.
More
Upload a video for this entry
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 1.0K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Notice
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
Yes
No
${ textCharacter }/${ maxCharacter }
Submit
Cancel
There is no comment~
${ textCharacter }/${ maxCharacter }
Submit
Cancel
${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
Submit
Cancel
Confirm
Are you sure to Delete?
Yes No
Academic Video Service