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Page 1
Distal myopathies.
Illa I. Illa I. J Neurol. 2000 Mar;247(3):169-74. doi: 10.1007/s004150050557. J Neurol. 2000. PMID: 10787109 Review.
Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, or Welander myopathy, the first recognized distal myopathy with autosomal dominant inheritance and very recently linked to chromosome 2p; l …
Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, …
Distal myopathies.
Nonaka I. Nonaka I. Curr Opin Neurol. 1999 Oct;12(5):493-9. doi: 10.1097/00019052-199910000-00002. Curr Opin Neurol. 1999. PMID: 10590885 Review.
The most representative diseases are dominantly inherited Welander distal myopathy and tibial muscular dystrophy, and the recessively inherited distal myopathy with rimmed vacuoles and distal muscular dystrophy (Miyoshi myopathy). Since the discovery of the gene loc …
The most representative diseases are dominantly inherited Welander distal myopathy and tibial muscular dystrophy, and the recessively inheri …
Dysferlinopathies.
Amato AA, Brown RH Jr. Amato AA, et al. Handb Clin Neurol. 2011;101:111-8. doi: 10.1016/B978-0-08-045031-5.00007-4. Handb Clin Neurol. 2011. PMID: 21496627 Review.
Affected individuals usually present with early involvement of the posterior calf muscles (Miyoshi myopathy) in their teens or early twenties, but can present with proximal greater than distal weakness similar to other limb-girdle muscular dystrophies (LGMD2B), with …
Affected individuals usually present with early involvement of the posterior calf muscles (Miyoshi myopathy) in their teens or …
Distal myopathies.
Udd B, Griggs R. Udd B, et al. Curr Opin Neurol. 2001 Oct;14(5):561-6. doi: 10.1097/00019052-200110000-00003. Curr Opin Neurol. 2001. PMID: 11562566 Review.
The ability to make a molecular diagnosis has increased awareness of dysferlinopathy - Miyoshi myopathy. Since most entities have been linked to specific chromosomal loci, it is likely that other distal myopathies will soon be better recognized by their molecular ge …
The ability to make a molecular diagnosis has increased awareness of dysferlinopathy - Miyoshi myopathy. Since most entities h …
Dysferlinopathies.
Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N. Urtizberea JA, et al. Neurol India. 2008 Jul-Sep;56(3):289-97. doi: 10.4103/0028-3886.43447. Neurol India. 2008. PMID: 18974555 Free article. Review.
So far, three main phenotypes have been reported: Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD 2B), and distal myopathy with anterior tibial onset (DMAT). ...
So far, three main phenotypes have been reported: Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD 2B), and …
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 …
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 …
[Distal myopathies].
Pénisson-Besnier I. Pénisson-Besnier I. Rev Neurol (Paris). 2004 Feb;160(2):211-6. doi: 10.1016/s0035-3787(04)70893-0. Rev Neurol (Paris). 2004. PMID: 15034479 Review. French.
They are classified according to age at onset, mode of inheritance, and muscle groups initially involved into the following: Laing myopathy (infancy onset, autosomal dominant inheritance, onset in anterior compartment of legs) caused by mutations in a myosin gene (MYH7) on chromo …
They are classified according to age at onset, mode of inheritance, and muscle groups initially involved into the following: Laing myopathy …
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 …
28 results