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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nürnberg P; UK10K Consortium; Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F. Cirak S, et al. Among authors: longman c. Brain. 2013 Jan;136(Pt 1):269-81. doi: 10.1093/brain/aws312. Epub 2013 Jan 3. Brain. 2013. PMID: 23288328 Free PMC article.
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.
Hocking LJ, Andrews C, Armstrong C, Ansari M, Baty D, Berg J, Bradley T, Clark C, Diamond A, Doherty J, Lampe A, McGowan R, Moore DJ, O'Sullivan D, Purvis A, Santoyo-Lopez J, Westwood P, Abbott M, Williams N; Scottish Genomes Partnership; Aitman TJ, Miedzybrodzka Z. Hocking LJ, et al. Eur J Hum Genet. 2023 Feb;31(2):231-238. doi: 10.1038/s41431-022-01226-3. Epub 2022 Dec 6. Eur J Hum Genet. 2023. PMID: 36474026 Free PMC article.
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F. Longman C, et al. Hum Mol Genet. 2003 Nov 1;12(21):2853-61. doi: 10.1093/hmg/ddg307. Epub 2003 Sep 9. Hum Mol Genet. 2003. PMID: 12966029
Skeletal muscle involvement in infantile systemic hyalinosis.
Zolkipli Z, Longman C, Brown S, Rahman N, Holder SE, Muntoni F. Zolkipli Z, et al. Among authors: longman c. Eur J Paediatr Neurol. 2003;7(6):401-6. doi: 10.1016/s1090-3798(03)00109-0. Eur J Paediatr Neurol. 2003. PMID: 14623219
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
Dinçer P, Balci B, Yuva Y, Talim B, Brockington M, Dinçel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerçeker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H. Dinçer P, et al. Among authors: longman c. Neuromuscul Disord. 2003 Dec;13(10):771-8. doi: 10.1016/s0960-8966(03)00161-5. Neuromuscul Disord. 2003. PMID: 14678799
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Beltran-Valero de Bernabé D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F. Beltran-Valero de Bernabé D, et al. Among authors: longman c. J Med Genet. 2004 May;41(5):e61. doi: 10.1136/jmg.2003.013870. J Med Genet. 2004. PMID: 15121789 Free PMC article. No abstract available.
118 results