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2014 4
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53 results

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Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L, Frankhuizen WS, Linssen WHJP, Straathof CS, Niks EH, Faber K, Fock A, Kuks JB, Brusse E, de Coo R, Voermans N, Verrips A, Hoogendijk JE, van der Pol L, Westra D, de Visser M, van der Kooi AJ, Ginjaar I. Ten Dam L, et al. Clin Genet. 2019 Aug;96(2):126-133. doi: 10.1111/cge.13544. Epub 2019 May 6. Clin Genet. 2019. PMID: 30919934
In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in …
In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LG …
Functions of Vertebrate Ferlins.
Bulankina AV, Thoms S. Bulankina AV, et al. Cells. 2020 Feb 25;9(3):534. doi: 10.3390/cells9030534. Cells. 2020. PMID: 32106631 Free PMC article. Review.
Mutations in DYSF (dysferlin) can cause a range of muscle diseases with various clinical manifestations collectively known as dysferlinopathies, including limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. A mutation in MYOF (myoferlin) was linked …
Mutations in DYSF (dysferlin) can cause a range of muscle diseases with various clinical manifestations collectively known as dysferlinopath …
Dysferlinopathies: Clinical and genetic variability.
Ivanova A, Smirnikhina S, Lavrov A. Ivanova A, et al. Clin Genet. 2022 Dec;102(6):465-473. doi: 10.1111/cge.14216. Epub 2022 Sep 6. Clin Genet. 2022. PMID: 36029111 Review.
At least four forms of dysferlinopathies have been described: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset, and isolated hyperCKemia. ...
At least four forms of dysferlinopathies have been described: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, distal …
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
Moore U, Gordish H, Diaz-Manera J, James MK, Mayhew AG, Guglieri M, Fernandez-Torron R, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Straub V; Jain COS Consortium. Moore U, et al. Neuromuscul Disord. 2021 Apr;31(4):265-280. doi: 10.1016/j.nmd.2021.01.009. Epub 2021 Jan 21. Neuromuscul Disord. 2021. PMID: 33610434 Free article.
This study aims to determine clinically relevant phenotypic differences between the two most common phenotypic classifications in dysferlinopathy, limb girdle muscular dystrophy R2 (LGMDR2) and Miyoshi myopathy (MMD1). LGMDR2 and MMD1 are reported to involve differe …
This study aims to determine clinically relevant phenotypic differences between the two most common phenotypic classifications in dysferlino …
Annexins and Membrane Repair Dysfunctions in Muscular Dystrophies.
Croissant C, Carmeille R, Brévart C, Bouter A. Croissant C, et al. Int J Mol Sci. 2021 May 17;22(10):5276. doi: 10.3390/ijms22105276. Int J Mol Sci. 2021. PMID: 34067866 Free PMC article. Review.
Muscular dystrophies constitute a group of genetic disorders that cause weakness and progressive loss of skeletal muscle mass. Among them, Miyoshi muscular dystrophy 1 (MMD1), limb girdle muscular dystrophy type R2 (LGMDR2/2B), and LGMDR12 (2L) are characteri …
Muscular dystrophies constitute a group of genetic disorders that cause weakness and progressive loss of skeletal muscle mass. Among them, …
Progress and challenges in diagnosis of dysferlinopathy.
Fanin M, Angelini C. Fanin M, et al. Muscle Nerve. 2016 Nov;54(5):821-835. doi: 10.1002/mus.25367. Muscle Nerve. 2016. PMID: 27501525 Review.
Dysferlin-deficient limb girdle muscular dystrophy type 2B, distal Miyoshi myopathy, and other less frequent phenotypes are a group of recessive disorders called dysferlinopathies. ...
Dysferlin-deficient limb girdle muscular dystrophy type 2B, distal Miyoshi myopathy, and other less frequent phenotypes are a …
Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review.
Park J, Moon YJ, Kim DS. Park J, et al. Genes (Basel). 2023 Jan 12;14(1):200. doi: 10.3390/genes14010200. Genes (Basel). 2023. PMID: 36672942 Free PMC article. Review.
Dysferlinopathy covers a spectrum of muscle disorder categorized by two major phenotypes, namely Miyoshi muscular dystrophy type 1 (MMD1, OMIM #254130) and limb-girdle muscular dystrophy autosomal recessive 2 (LGMDR2, OMIM #253601), and two minor symptoms, in …
Dysferlinopathy covers a spectrum of muscle disorder categorized by two major phenotypes, namely Miyoshi muscular dystrophy …
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.
Moore U, Fernández-Simón E, Schiava M, Cox D, Gordish-Dressman H, James MK, Mayhew A, Wilson I, Guglieri M, Rufibach L, Blamire A, Carlier PG, Mori-Yoshimura M, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Bravver E, Pegoraro E, Mendell JR, Bushby K, Diaz-Manera J, Straub V; Jain COS Consortium. Moore U, et al. Neuromuscul Disord. 2023 Feb;33(2):199-207. doi: 10.1016/j.nmd.2023.01.001. Epub 2023 Jan 6. Neuromuscul Disord. 2023. PMID: 36689846 Free article.
53 results