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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 2
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1990 1
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1993 3
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1995 6
1996 5
1997 11
1998 8
1999 10
2000 8
2001 11
2002 5
2003 13
2004 18
2005 13
2006 13
2007 13
2008 9
2009 9
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2011 15
2012 13
2013 13
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308 results

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Page 1
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 the Netherlan …
In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LG …
Dysferlinopathy.
Aoki M, Takahashi T. Aoki M, et al. 2004 Feb 5 [updated 2021 May 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Feb 5 [updated 2021 May 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301480 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Dysferlinopathy includes a spectrum of muscle disease characterized by two major phenotypes: Miyoshi muscular dystrophy (MMD) and limb-girdle muscular dystrophy type 2B (LGMD2B); and two minor phenotypes: asymptomatic hyperCKemia and distal myo …
CLINICAL CHARACTERISTICS: Dysferlinopathy includes a spectrum of muscle disease characterized by two major phenotypes: Miyoshi muscul …
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 …
ANO5 Muscle Disease.
Penttilä S, Vihola A, Palmio J, Udd B. Penttilä S, et al. 2012 Nov 29 [updated 2019 Aug 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Nov 29 [updated 2019 Aug 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 23193613 Free Books & Documents. Review.
The most typical presentation is limb-girdle muscular dystrophy type 2L (LGMD2L) with late-onset proximal lower-limb weakness in the fourth or fifth decade (range 15-70 years). Less common is Miyoshi-like disease (Miyoshi muscular dystrophy 3) with early-adult-onset …
The most typical presentation is limb-girdle muscular dystrophy type 2L (LGMD2L) with late-onset proximal lower-limb weakness in the fourth …
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 o …
The most representative diseases are dominantly inherited Welander distal myopathy and tibial muscular dystrophy, and the recessively …
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 ch …
Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, …
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.
Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an autosomal recessive mode of inheritance. So far, three main phenotypes have been reported: Miyoshi myopathy (MM), limb girdle mu …
Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an au …
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 …
Distal myopathy.
Satoyoshi E. Satoyoshi E. Tohoku J Exp Med. 1990 Aug;161 Suppl:1-19. doi: 10.1620/tjem.161.supplement_1. Tohoku J Exp Med. 1990. PMID: 2082493 Free article. Review.
Various types of the distal myopathy except Welander's late distal myopathy of Swedish type were described. ...Among these various distal myopathy, an emphasis was made upon the clinical and pathological characteristics of the diseases, particularly distal mu …
Various types of the distal myopathy except Welander's late distal myopathy of Swedish type were described. ...Among these var …
308 results