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Quoted phrase not found in phrase index: "Myofibrillar myopathy 11"
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BAG3-Related Myofibrillar Myopathy Presenting as Hypercapnia: A Case Report and Literature Review.
Xu Y, Liu SX, Xu WB, Luo JM, Niu JW, Liu Z, Gao JM, Wang JL, Dai Y, Wang MZ. Xu Y, et al. Chin Med Sci J. 2021 Dec 31;36(4):265-278. doi: 10.24920/003883. Chin Med Sci J. 2021. PMID: 34986963 Review.
The male to female ratio was 11:10 and most showed initial symptoms in the first decade of life. ...Conclusion BAG3-associated myopathy is a rare type of myofibrillar myopathy. It should be considered as a rare differential diagnosis of hypercapnia....
The male to female ratio was 11:10 and most showed initial symptoms in the first decade of life. ...Conclusion BAG3-associated myopat …
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 …
Neonatal myofibrillar myopathy type II associated with biallelic UNC-45B gene novel mutation and perinatal myasthenia as the core phenotype: A case report.
Shi LY, Liu Y, Hu XF, Li XH, Wu XY, Hu J, Ye CQ, Dai QM, Huang HZ. Shi LY, et al. Clin Chim Acta. 2022 Jun 1;531:12-16. doi: 10.1016/j.cca.2022.03.002. Epub 2022 Mar 12. Clin Chim Acta. 2022. PMID: 35292251
Myofibrillar myopathy (MFM) is characterized by phenotypic heterogeneity; decreased function of the myosin-directed chaperone, UNC-45B protein, leads to MFM II, which is characterized by slow progressive proximal myasthenia. Currently, only two studies have reported …
Myofibrillar myopathy (MFM) is characterized by phenotypic heterogeneity; decreased function of the myosin-directed chaperone, …
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 …