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Merosin-positive congenital muscular dystrophy: a large inbred family.
Mahjneh I, Bushby K, Anderson L, Muntoni F, Tolvanen-Mahjneh H, Bashir R, Pizzi A, Brockington M, Marconi G. Mahjneh I, et al. Among authors: brockington m. Neuropediatrics. 1999 Feb;30(1):22-8. doi: 10.1055/s-2007-973452. Neuropediatrics. 1999. PMID: 10222457
The phenotype of limb-girdle muscular dystrophy type 2I.
Poppe M, Cree L, Bourke J, Eagle M, Anderson LV, Birchall D, Brockington M, Buddles M, Busby M, Muntoni F, Wills A, Bushby K. Poppe M, et al. Among authors: brockington m. Neurology. 2003 Apr 22;60(8):1246-51. doi: 10.1212/01.wnl.0000058902.88181.3d. Neurology. 2003. PMID: 12707425
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.
Villanova M, Mercuri E, Bertini E, Sabatelli P, Morandi L, Mora M, Sewry C, Brockington M, Brown SC, Ferreiro A, Maraldi NM, Toda T, Guicheney P, Merlini L, Muntoni F. Villanova M, et al. Among authors: brockington m. Neuromuscul Disord. 2000 Dec;10(8):541-7. doi: 10.1016/s0960-8966(00)00139-5. Neuromuscul Disord. 2000. PMID: 11053679
Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings.
Ruggieri V, Lubieniecki F, Meli F, Diaz D, Ferragut E, Saito K, Brockington M, Muntoni F, Fukuyama Y, Taratuto AL. Ruggieri V, et al. Among authors: brockington m. Neuromuscul Disord. 2001 Sep;11(6-7):570-8. doi: 10.1016/s0960-8966(01)00199-7. Neuromuscul Disord. 2001. PMID: 11525887
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F. Brockington M, et al. Hum Mol Genet. 2001 Dec 1;10(25):2851-9. doi: 10.1093/hmg/10.25.2851. Hum Mol Genet. 2001. PMID: 11741828
65 results