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Quoted phrase not found in phrase index: "Myofibrillar myopathy 7"
Page 1
Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.
Carvalho AAS, Lacene E, Brochier G, Labasse C, Madelaine A, Silva VGD, Corazzini R, Papadopoulos K, Behin A, Laforêt P, Stojkovic T, Eymard B, Fardeau M, Romero N. Carvalho AAS, et al. Genet Test Mol Biomarkers. 2018 Jun;22(6):374-383. doi: 10.1089/gtmb.2018.0004. Genet Test Mol Biomarkers. 2018. PMID: 29924655
METHODS: Forty-eight PAM patients (29 men, 19 women) were divided into two groups, those with genetically (GIM) and nongenetically identified (NGIM) mutations associated with myofibrillar myopathy. RESULTS: Age of myopathy onset ranged from 13 to 68 years. ...Eleven …
METHODS: Forty-eight PAM patients (29 men, 19 women) were divided into two groups, those with genetically (GIM) and nongenetically identifie …
Polymyositis: is there anything left? A retrospective diagnostic review from a tertiary myositis centre.
Loarce-Martos J, Lilleker JB, Parker M, McHugh N, Chinoy H. Loarce-Martos J, et al. Rheumatology (Oxford). 2021 Jul 1;60(7):3398-3403. doi: 10.1093/rheumatology/keaa801. Rheumatology (Oxford). 2021. PMID: 33367878
RESULTS: Nine (9/37, 24.3%) patients remained classified as PM, 3.5% (9/255) of the original cohort; these PM patients were seronegative for myositis antibodies, responsive to immunosuppression, and in 4/7 (57.1%) patients where muscle biopsy was performed had HLA-1 upregu …
RESULTS: Nine (9/37, 24.3%) patients remained classified as PM, 3.5% (9/255) of the original cohort; these PM patients were seronegative for …
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. ...
Hereditary myopathy with early respiratory failure (HMERF) is a subtype of myofibrillar myopathy. Mutations located on exon 34 …
Myopathies presenting with head drop: Clinical spectrum and treatment outcomes.
Alhammad RM, Naddaf E. Alhammad RM, et al. Neuromuscul Disord. 2020 Feb;30(2):128-136. doi: 10.1016/j.nmd.2019.12.001. Epub 2019 Dec 12. Neuromuscul Disord. 2020. PMID: 32005492
A specific diagnosis was reached in 53% of patients: Inflammatory myopathy (n = 16), myopathy with rimmed vacuoles (n = 10), radiation-induced myopathy (n = 8), sporadic late-onset nemaline myopathy (n = 7), myofibrillar myopathy (n = 4), facioscapulohumeral …
A specific diagnosis was reached in 53% of patients: Inflammatory myopathy (n = 16), myopathy with rimmed vacuoles (n = 10), radiation-induc …
The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy".
Schänzer A, Schumann E, Zengeler D, Gulatz L, Maroli G, Ahting U, Sprengel A, Gräf S, Hahn A, Jux C, Acker T, Fürst DO, Rupp S, Schuld J, van der Ven PFM. Schänzer A, et al. J Muscle Res Cell Motil. 2021 Jun;42(2):381-397. doi: 10.1007/s10974-021-09601-1. Epub 2021 Mar 12. J Muscle Res Cell Motil. 2021. PMID: 33710525
Myocardial tissue of our patient obtained during myectomy at the age of 23 years was analyzed in detail by histochemistry, immunofluorescence staining, electron microscopy and western blot analysis. Cardiac histology showed a pathology typical for myofibrillar myopathy …
Myocardial tissue of our patient obtained during myectomy at the age of 23 years was analyzed in detail by histochemistry, immunofluorescenc …
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.
Koopmann TT, Jamshidi Y, Naghibi-Sistani M, van der Klift HM, Birjandi H, Al-Hassnan Z, Alwadai A, Zifarelli G, Karimiani EG, Sedighzadeh S, Bahreini A, Nouri N, Peter M, Watanabe K, van Duyvenvoorde HA, Ruivenkamp CAL, Teunissen AKK, Ten Harkel ADJ, van Duinen SG, Haak MC, Prada CE, Santen GWE, Maroofian R. Koopmann TT, et al. Eur J Hum Genet. 2023 Jan;31(1):97-104. doi: 10.1038/s41431-022-01204-9. Epub 2022 Oct 17. Eur J Hum Genet. 2023. PMID: 36253531 Free PMC article.
Autosomal dominant variants in LDB3 (also known as ZASP), encoding the PDZ-LIM domain-binding factor, have been linked to a late onset phenotype of cardiomyopathy and myofibrillar myopathy in humans. However, despite knockout mice displaying a much more severe pheno …
Autosomal dominant variants in LDB3 (also known as ZASP), encoding the PDZ-LIM domain-binding factor, have been linked to a late onset pheno …
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A. Hedberg C, et al. Eur J Hum Genet. 2012 Sep;20(9):984-5. doi: 10.1038/ejhg.2012.39. Epub 2012 Mar 7. Eur J Hum Genet. 2012. PMID: 22395865 Free PMC article.
Using exome sequencing we searched for the genetic cause of autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy (ARVC) in a Swedish family. ...
Using exome sequencing we searched for the genetic cause of autosomal dominant myofibrillar myopathy with arrhythmogenic right …
Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.
Janin A, N'Guyen K, Habib G, Dauphin C, Chanavat V, Bouvagnet P, Eschalier R, Streichenberger N, Chevalier P, Millat G. Janin A, et al. Clin Genet. 2017 Dec;92(6):616-623. doi: 10.1111/cge.13043. Epub 2017 May 18. Clin Genet. 2017. PMID: 28436997
Most of them were identified, as expected, on TTN (29 DCM probands), but truncating variants were also identified on myofibrillar myopathies causing genes in 17 DCM patients (7.7% of the DCM cohort): 10 variations on FLNC and 7 variations on BAG3 . ...
Most of them were identified, as expected, on TTN (29 DCM probands), but truncating variants were also identified on myofibrillar myopathies …
A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family.
Ma K, Luo D, Tian T, Li N, He X, Rao C, Zhong B, Lu X. Ma K, et al. Mol Genet Genomic Med. 2019 Aug;7(8):e825. doi: 10.1002/mgg3.825. Epub 2019 Jun 18. Mol Genet Genomic Med. 2019. PMID: 31215171 Free PMC article.
BACKGROUND: Due to inconsistencies with reported myofibrillar myopathy (MFM), including autosomal dominant inheritance, late onset and a slowly progressive course, the severe, recessively inherited form of CRYAB (alpha-B crystallin) gene-related infantile MFM has be …
BACKGROUND: Due to inconsistencies with reported myofibrillar myopathy (MFM), including autosomal dominant inheritance, late o …