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Quoted phrase not found in phrase index: "Myofibrillar myopathy 11"
Page 1
Mitochondrial abnormalities in the myofibrillar myopathies.
Jackson S, Schaefer J, Meinhardt M, Reichmann H. Jackson S, et al. Eur J Neurol. 2015 Nov;22(11):1429-35. doi: 10.1111/ene.12814. Epub 2015 Jul 23. Eur J Neurol. 2015. PMID: 26204918 Review.
Mitochondrial abnormalities have been described in muscle from patients with a myofibrillar myopathy. We reviewed the literature to determine the extent of mitochondrial dysfunction in each of the myofibrillar myopathy subtypes. ...
Mitochondrial abnormalities have been described in muscle from patients with a myofibrillar myopathy. We reviewed the literatu …
Mitochondrial dysfunction in myofibrillar myopathy.
Vincent AE, Grady JP, Rocha MC, Alston CL, Rygiel KA, Barresi R, Taylor RW, Turnbull DM. Vincent AE, et al. Neuromuscul Disord. 2016 Oct;26(10):691-701. doi: 10.1016/j.nmd.2016.08.004. Epub 2016 Aug 10. Neuromuscul Disord. 2016. PMID: 27618136 Free PMC article.
Further to this we report higher levels of respiratory chain complex I and IV deficiency compared to age matched controls, although overall levels of respiratory deficient muscle fibres in patient biopsies are low. More strikingly, a significantly higher percentage of myofibri …
Further to this we report higher levels of respiratory chain complex I and IV deficiency compared to age matched controls, although overall …
Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests.
Valberg SJ, Henry ML, Herrick KL, Velez-Irizarry D, Finno CJ, Petersen JL. Valberg SJ, et al. Equine Vet J. 2023 Mar;55(2):230-238. doi: 10.1111/evj.13574. Epub 2022 Apr 1. Equine Vet J. 2023. PMID: 35288976 Free PMC article.
BACKGROUND: Genetic tests for variants in MYOT (P2; rs1138656462), FLNC (P3a; rs1139799323 or P3b; rs1142918816) and MYOZ3 (P4; rs1142544043) genes are offered commercially to diagnose myofibrillar myopathy (MFM) and type 2 polysaccharide storage myopathy (PSSM2) in …
BACKGROUND: Genetic tests for variants in MYOT (P2; rs1138656462), FLNC (P3a; rs1139799323 or P3b; rs1142918816) and MYOZ3 (P4; rs1142544043 …
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.
Olivé M, Odgerel Z, Martínez A, Poza JJ, Bragado FG, Zabalza RJ, Jericó I, Gonzalez-Mera L, Shatunov A, Lee HS, Armstrong J, Maraví E, Arroyo MR, Pascual-Calvet J, Navarro C, Paradas C, Huerta M, Marquez F, Rivas EG, Pou A, Ferrer I, Goldfarb LG. Olivé M, et al. Neuromuscul Disord. 2011 Aug;21(8):533-42. doi: 10.1016/j.nmd.2011.05.002. Epub 2011 Jun 14. Neuromuscul Disord. 2011. PMID: 21676617 Free PMC article.
Mutations in MYOT were the predominant cause of MFM in Spain affecting 18 of 35 families, followed by DES in 11 and ZASP in 3; in 3 families the cause of MFM remains undetermined. ...
Mutations in MYOT were the predominant cause of MFM in Spain affecting 18 of 35 families, followed by DES in 11 and ZASP in 3; in 3 f …
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.
Odgerel Z, Sarkozy A, Lee HS, McKenna C, Rankin J, Straub V, Lochmüller H, Paola F, D'Amico A, Bertini E, Bushby K, Goldfarb LG. Odgerel Z, et al. Neuromuscul Disord. 2010 Jul;20(7):438-42. doi: 10.1016/j.nmd.2010.05.004. Epub 2010 Jun 3. Neuromuscul Disord. 2010. PMID: 20605452 Free PMC article.
We studied three families with BAG3 p.Pro209Leu mutation showing a severe phenotype of myofibrillar myopathy and axonal neuropathy with giant axons. In one family, transmission to a pair of siblings has occurred from their asymptomatic father who showed somatic mosa …
We studied three families with BAG3 p.Pro209Leu mutation showing a severe phenotype of myofibrillar myopathy and axonal neurop …
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. Mutations located on exon 344 of the titin-A band, the 119th fibronectin-3 domain (FN(3) 119), are responsible for HMERF. ...We retrospectively reviewed four reported H …
Hereditary myopathy with early respiratory failure (HMERF) is a subtype of myofibrillar myopathy. Mutations located on exon 34 …
The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy.
Löwe T, Kley RA, van der Ven PF, Himmel M, Huebner A, Vorgerd M, Fürst DO. Löwe T, et al. Hum Mol Genet. 2007 Jun 1;16(11):1351-8. doi: 10.1093/hmg/ddm085. Epub 2007 Apr 5. Hum Mol Genet. 2007. PMID: 17412757
Myofibrillar myopathy (MFM) is a pathologically defined group of hereditary human muscle diseases, characterized by focal myofibrillar destruction and cytoplasmic aggregates that contain several Z-disc-related proteins. ...
Myofibrillar myopathy (MFM) is a pathologically defined group of hereditary human muscle diseases, characterized by focal myof …
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB. Saha M, et al. Physiol Genomics. 2018 Nov 1;50(11):929-939. doi: 10.1152/physiolgenomics.00036.2018. Epub 2018 Aug 31. Physiol Genomics. 2018. PMID: 30345904 Free PMC article.
One Sudanese family of Arab descent residing in Saudi Arabia harbored a homozygous c.464A>G, p.Asn155Ser mutation in PYROXD1, a gene recently reported in association with myofibrillar myopathy and whose protein product reduces thiol residues. ...
One Sudanese family of Arab descent residing in Saudi Arabia harbored a homozygous c.464A>G, p.Asn155Ser mutation in PYROXD1, a gene rece …