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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 muscle biopsy and the blood whole-exome sequencing results confirmed the diagnosis of myofibrillar myopathy with a de novo p.Pro209Leu mutation in BAG3. Totally twenty-one patients from twenty families with a confirmed diagnosis of BAG3-related myopathy were rep …
The muscle biopsy and the blood whole-exome sequencing results confirmed the diagnosis of myofibrillar myopathy with a de novo …
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 …