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Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
Poppe M, Bourke J, Eagle M, Frosk P, Wrogemann K, Greenberg C, Muntoni F, Voit T, Straub V, Hilton-Jones D, Shirodaria C, Bushby K. Poppe M, et al. Among authors: greenberg c. Ann Neurol. 2004 Nov;56(5):738-41. doi: 10.1002/ana.20283. Ann Neurol. 2004. PMID: 15505776
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K. Frosk P, et al. Among authors: greenberg cr. Hum Mutat. 2005 Jan;25(1):38-44. doi: 10.1002/humu.20110. Hum Mutat. 2005. PMID: 15580560
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
Anderson LV, Harrison RM, Pogue R, Vafiadaki E, Pollitt C, Davison K, Moss JA, Keers S, Pyle A, Shaw PJ, Mahjneh I, Argov Z, Greenberg CR, Wrogemann K, Bertorini T, Goebel HH, Beckmann JS, Bashir R, Bushby KM. Anderson LV, et al. Among authors: greenberg cr. Neuromuscul Disord. 2000 Dec;10(8):553-9. doi: 10.1016/s0960-8966(00)00143-7. Neuromuscul Disord. 2000. PMID: 11053681
765 results