| 1 | DMAT, DYSF, LGMD2B, MMD1
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| Analysis of the DYSF mutational spectrum in a large cohort of patients.
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| Krahn M, Béroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, Pellissier JF, Pouget J, Hammouda el H, Laforêt P, Urtizberea JA, Eymard B, Leturcq F, Lévy N.
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| Hum Mutat um Mutat. 2009 2009
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| 2 | DYSF, MMD1
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| A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene.
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| Hattori H, Nagata E, Oya Y, Takahashi T, Aoki M, Ito D, Suzuki N.
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| Eur J Neurol 14(11):1288-91. Epub 2007 Sep 14. 2007
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| 3 | DMAT, DYSF, LGMD2B, MMD1
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| Distal anterior compartment myopathy with early ankle contractures.
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| Saito H, Suzuki N, Ishiguro H, Hirota K, Itoyama Y, Takahashi T, Aoki M.
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| Muscle Nerve 36(4):525-7.PMID: 17614318 2007
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| 4 | DYSF, MMD1
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| Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy.
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| Suzuki N, Aoki M, Takahashi T, Takano D, Asano M, Shiga Y, Onodera Y, Tateyama M, Itoyama Y.
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| Muscle Nerve 29(5):721-3. 2004
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| 5 | DYSF, LGMD2B, MMD1
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| Defective membrane repair in dysferlin-deficient muscular dystrophy.
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| Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP.
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| Nature 423(6936):168-72. 2003
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| 6 | DYSF, LGMD2B, MMD1
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| Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.
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| Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, Goto K, Nonaka I, Nishino I, Hayashi YK.
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| J Neurol Sci 211(1-2):23-8. 2003
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| 7 | DYSF, MMD1
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| Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.
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| Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen J, Brown HE, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn RJ, Urtizberea JA, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann JS, Brown RH Jr.
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| Neurology 57(2):271-8. 2001
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| 8 | MMD1
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| [Miyoshi distal myopathy: specific signs and incidence]
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| Eymard B, Laforet P, Tome FM, Collin H, Leroy JP, Hauw JJ, Richard I, Beckmann J, Fardeau M.
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| Rev Neurol (Paris) 156(2):161-8. French. 2000
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| 9 | DYSF, LGMD2B, MMD1
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| Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi Myopathy suggests a role for modifier gene.
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| Weiler T, et al.
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| Hum Mol Genet 8(5):871-7. 1999
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| 10 | DYSF, LGMD2B, MMD1
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| Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13.
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| Liu J, et al.
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| Genomics 49 : 23-29. 1998
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| 11 | DYSF, LGMD2B, MMD1
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| Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
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| Liu J, et al.
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| Nat Genet 20 : 31-36. 1998
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| 12 | MMD1
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| Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene.
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| Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Poleshchuk VV, Markova ED, Tsuji S.
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| Genomics 42(2):345-8. 1997
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| 13 | DYSF, MMD1
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| Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients.
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| Linssen WH, Notermans NC, Van der Graaf Y, Wokke JH, Van Doorn PA, Howeler CJ, Busch HF, De Jager AE, De Visser M.
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| Brain 120 ( Pt 11):1989-96. 1997
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| 14 | LGMD2B, MMD1
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| Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.
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| Weiler T, et al.
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| Am J Hum Genet 59 : 872-878. 1996
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| 15 | DYSF, LGMD2B, MMD1
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| Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14.
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| Bejaoui K, et al.
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| Neurology 45 : 768-772. 1995
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