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Page 1
Phenotypic and genotypic analysis of a patient with Miyoshi myopathy caused by truncated protein.
Zhou J, Zhou R, Feng Q, Song X, Chen X. Zhou J, et al. Gene. 2024 Jan 30;893:147929. doi: 10.1016/j.gene.2023.147929. Epub 2023 Oct 29. Gene. 2024. PMID: 38381504
Large amounts of scattered necrosis, myogenic lesions, and complete deletion of dysferlin protein were observed under muscle biopsy, which further improved genetic detection. Whole exome sequencing showed compound mutations (c.1397 + 1_1397 + 3del and c.1375dup p.M459Nfs*1 …
Large amounts of scattered necrosis, myogenic lesions, and complete deletion of dysferlin protein were observed under muscle biopsy, …
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.
Linear modelling demonstrated that function, serum creatine kinase and C-reactive protein, but not age, were independently related to myostatin concentration. Baseline myostatin concentration predicted loss of ambulation but not rate of change of functional or MRI measures …
Linear modelling demonstrated that function, serum creatine kinase and C-reactive protein, but not age, were independently related to myosta …
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, Béroud C, Urtizberea A, Eymard B, Leturcq F, Lévy N. Nguyen K, et al. Hum Mutat. 2005 Aug;26(2):165. doi: 10.1002/humu.9355. Hum Mutat. 2005. PMID: 16010686
DYSF encoding dysferlin is mutated in Miyoshi myopathy and Limb-Girdle Muscular Dystrophy type 2B, the two main phenotypes recognized in dysferlinopathies. ...All together, 54 sequence variations were identified in DYSF, 50 of which predicting either a trunca …
DYSF encoding dysferlin is mutated in Miyoshi myopathy and Limb-Girdle Muscular Dystrophy type 2B, the two main phenotypes rec …
Translational research and therapeutic perspectives in dysferlinopathies.
Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M. Barthélémy F, et al. Mol Med. 2011 Sep-Oct;17(9-10):875-82. doi: 10.2119/molmed.2011.00084. Epub 2011 May 6. Mol Med. 2011. PMID: 21556485 Free PMC article. Review.
DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B) and the second most common being LGMD. ...On the basis of this major function, along with detailed cli …
DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdl …
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.
Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K. Weiler T, et al. Am J Hum Genet. 1996 Oct;59(4):872-8. Am J Hum Genet. 1996. PMID: 8808603 Free PMC article.
Seven patients presented with proximal myopathy consistent with limb girdle-type muscular dystrophy (LGMD), whereas two patients manifested predominantly distal wasting and weakness consistent with Miyoshi myopathy (distal autosomal recessive muscular dystrophy) (MM …
Seven patients presented with proximal myopathy consistent with limb girdle-type muscular dystrophy (LGMD), whereas two patients manifested …
Lipid accumulation in dysferlin-deficient muscles.
Grounds MD, Terrill JR, Radley-Crabb HG, Robertson T, Papadimitriou J, Spuler S, Shavlakadze T. Grounds MD, et al. Am J Pathol. 2014 Jun;184(6):1668-76. doi: 10.1016/j.ajpath.2014.02.005. Epub 2014 Mar 29. Am J Pathol. 2014. PMID: 24685690 Clinical Trial.
Defects in dysferlin result in limb-girdle muscular dystrophy type 2B and Miyoshi myopathy in humans and myopathy in A/J(dys-/-) and BLAJ mice, but the pathomechanism of the myopathy is not understood. ...Similar results were seen for dysferlin-deficient BLAJ mice. …
Defects in dysferlin result in limb-girdle muscular dystrophy type 2B and Miyoshi myopathy in humans and myopathy in A/J(dys-/ …
Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile.
Belhassen I, Laroussi S, Sakka S, Rekik S, Lahkim L, Dammak M, Authier FJ, Mhiri C. Belhassen I, et al. Neuromuscul Disord. 2023 Oct;33(10):718-727. doi: 10.1016/j.nmd.2023.08.007. Epub 2023 Aug 18. Neuromuscul Disord. 2023. PMID: 37716854
Five major phenotypes were identified: Limb-girdle muscular dystrophy (LGMDR2) (35%), a proximodistal phenotype (35%), Miyoshi myopathy (10%), Distal myopathy with anterior tibial onset (DMAT) (10%), and asymptomatic HyperCKemia (10%). ...Genetic study disclosed fiv …
Five major phenotypes were identified: Limb-girdle muscular dystrophy (LGMDR2) (35%), a proximodistal phenotype (35%), Miyoshi myo …
Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.
Kawabe K, Goto K, Nishino I, Angelini C, Hayashi YK. Kawabe K, et al. Eur J Neurol. 2004 Oct;11(10):657-61. doi: 10.1111/j.1468-1331.2004.00755.x. Eur J Neurol. 2004. PMID: 15469449
Mutations in the dysferlin gene (DYSF) on chromosome 2p13 cause distinct phenotypes of muscular dystrophy: limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), and distal anterior compartment myopathy, which are known by the term 'dysferlinopathy' …
Mutations in the dysferlin gene (DYSF) on chromosome 2p13 cause distinct phenotypes of muscular dystrophy: limb-girdle muscular dystrophy ty …
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Moore U, Fernandez-Torron R, Jacobs M, Gordish-Dressman H, Diaz-Manera J, James MK, Mayhew AG, Harris E, Guglieri M, 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; Jain COS Consortium; Bourke J, Straub V. Moore U, et al. Muscle Nerve. 2022 May;65(5):531-540. doi: 10.1002/mus.27524. Epub 2022 Mar 5. Muscle Nerve. 2022. PMID: 35179231 Free PMC article.
Measures included forced vital capacity (FVC), electrocardiogram (ECG), and echocardiogram (echo). RESULTS: Mean FVC was 90% predicted at baseline, decreasing to 88% at year 3. FVC was less than 80% predicted in 44 patients (24%) at baseline and 48 patients (30%) by …
Measures included forced vital capacity (FVC), electrocardiogram (ECG), and echocardiogram (echo). RESULTS: Mean FVC was 90% predicted …
Null variants in DYSF result in earlier symptom onset.
Park HJ, Hong YB, Hong JM, Yun U, Kim SW, Shin HY, Kim SM, Choi YC. Park HJ, et al. Clin Genet. 2021 Mar;99(3):396-406. doi: 10.1111/cge.13887. Clin Genet. 2021. PMID: 33215690
We retrospectively reviewed 101 patients from 96 unrelated families with pathogenic variants of DYSF. The most common initial phenotype was Miyoshi myopathy in 50 patients. Median ages at examination and symptom onset were 23 [interquartile range (IQR): 18-30] and 3 …
We retrospectively reviewed 101 patients from 96 unrelated families with pathogenic variants of DYSF. The most common initial phenotype was …
53 results