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Hereditary Myopathy with Early Respiratory Failure.
Pfeffer G, Chinnery PF. Pfeffer G, et al. 2014 Feb 27 [updated 2024 Dec 12]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2014 Feb 27 [updated 2024 Dec 12]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 24575448 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Hereditary myopathy with early respiratory failure (HMERF) is a slowly progressive myopathy that typically begins in the third to fifth decades of life. ...
CLINICAL CHARACTERISTICS: Hereditary myopathy with early respiratory failure (HMERF) is a slowly p …
Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough.
Tasca G, Udd B. Tasca G, et al. Neuromuscul Disord. 2018 Mar;28(3):268-276. doi: 10.1016/j.nmd.2017.12.002. Epub 2017 Dec 12. Neuromuscul Disord. 2018. PMID: 29361395 Review.
Phenotypic and genetic/allelic heterogeneity is a feature of many neuromuscular disorders, titinopathies being one of them. Hereditary Myopathy with Early Respiratory Failure (HMERF) has been considered an extremely rare disease with defi …
Phenotypic and genetic/allelic heterogeneity is a feature of many neuromuscular disorders, titinopathies being one of them. Hereditary …
Hereditary myopathy with early respiratory failure.
García-Alcántara G, Barbero E, Ruz-Caracuel I, Rodríguez C, Moreno-López C, López-Rebolledo R, Stiauren ES, Álvarez-Velasco R. García-Alcántara G, et al. Pract Neurol. 2025 Aug 26:pn-2025-004692. doi: 10.1136/pn-2025-004692. Online ahead of print. Pract Neurol. 2025. PMID: 40858386
Genetic testing identified a novel heterozygous missense mutation (c.95350G>A, p.Ala31784Thr) in the fibronectin type-III 119 domain of the TTN gene, leading to the diagnosis of hereditary myopathy with early respiratory failure (HMERF …
Genetic testing identified a novel heterozygous missense mutation (c.95350G>A, p.Ala31784Thr) in the fibronectin type-III 119 domain of t …
A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.
Sano Y, Ota S, Oishi M, Honda M, Omoto M, Kawai M, Okubo M, Nishino I, Kanda T. Sano Y, et al. Intern Med. 2022 May 15;61(10):1587-1592. doi: 10.2169/internalmedicine.7733-21. Epub 2021 Oct 19. Intern Med. 2022. PMID: 34670883 Free PMC article.
Hereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and is considered quite rare. ...
Hereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in …
Hereditary myopathy with early respiratory failure: occurrence in various populations.
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. Palmio J, et al. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):345-53. doi: 10.1136/jnnp-2013-304965. Epub 2013 Apr 19. J Neurol Neurosurg Psychiatry. 2014. PMID: 23606733
OBJECTIVE: Several families with characteristic features of hereditary myopathy with early respiratory failure (HMERF) have remained without genetic cause. ...
OBJECTIVE: Several families with characteristic features of hereditary myopathy with early respiratory …
Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure.
Lv X, Zhao B, Xu L, Jiang W, Dai T, Zhao D, Lin P, Yan C. Lv X, et al. Neurol Sci. 2022 May;43(5):3371-3380. doi: 10.1007/s10072-021-05783-1. Epub 2021 Nov 28. Neurol Sci. 2022. PMID: 34839411
Hereditary myopathy with early respiratory failure (HMERF) is a subtype of myofibrillar myopathy. ...
Hereditary myopathy with early respiratory failure (HMERF) is a subtype of myofibrillar myopathy. …
TTN-related hereditary myopathy with early respiratory failure presented with elevated hemoglobin initially: A case report and literature review.
Liang H, Liu D, Gao Q, Zhai Z. Liang H, et al. Heliyon. 2024 Apr 12;10(8):e29637. doi: 10.1016/j.heliyon.2024.e29637. eCollection 2024 Apr 30. Heliyon. 2024. PMID: 38655354 Free PMC article.
Finally, in combination with his family history and the results of whole exome sequencing, he was diagnosed with hereditary myopathy with early respiratory failure (HMERF, OMIM 603689) caused by a variant in the titin gene (TTN). ...
Finally, in combination with his family history and the results of whole exome sequencing, he was diagnosed with hereditary myopat …
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
BACKGROUND: In hereditary myopathy with early respiratory failure (HMERF), cytoplasmic bodies (CBs) are often localised in subsarcolemmal regions, with necklace-like alignment (necklace CBs), in muscle fibres although their sensitivity an …
BACKGROUND: In hereditary myopathy with early respiratory failure (HMERF), cytoplasmic bodies (CBs …
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