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MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement.
Neuromuscul Disord. 2007 Jan;17(1):28-32. doi: 10.1016/j.nmd.2006.09.013. Epub 2006 Nov 28.
Neuromuscul Disord. 2007.
PMID: 17134899
Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophin.
Gorokhova S, Schessl J, Zou Y, Yang ML, Heydemann PT, Sufit RL, Meilleur K, Donkervoort S, Medne L, Finkel RS, Bönnemann CG.
Gorokhova S, et al.
Med. 2023 Apr 14;4(4):245-251.e3. doi: 10.1016/j.medj.2023.02.005. Epub 2023 Mar 10.
Med. 2023.
PMID: 36905929
Free article.
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Autosomal recessive inheritance of classic Bethlem myopathy.
Foley AR, Hu Y, Zou Y, Columbus A, Shoffner J, Dunn DM, Weiss RB, Bönnemann CG.
Foley AR, et al.
Neuromuscul Disord. 2009 Dec;19(12):813-7. doi: 10.1016/j.nmd.2009.09.010. Epub 2009 Nov 1.
Neuromuscul Disord. 2009.
PMID: 19884007
Free PMC article.
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Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
Zhang RZ, Zou Y, Pan TC, Markova D, Fertala A, Hu Y, Squarzoni S, Reed UC, Marie SKN, Bönnemann CG, Chu ML.
Zhang RZ, et al.
J Biol Chem. 2010 Mar 26;285(13):10005-10015. doi: 10.1074/jbc.M109.093666. Epub 2010 Jan 27.
J Biol Chem. 2010.
PMID: 20106987
Free PMC article.
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Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.
Foley AR, Hu Y, Zou Y, Yang M, Medne L, Leach M, Conlin LK, Spinner N, Shaikh TH, Falk M, Neumeyer AM, Bliss L, Tseng BS, Winder TL, Bönnemann CG.
Foley AR, et al.
Ann Neurol. 2011 Jan;69(1):206-11. doi: 10.1002/ana.22283.
Ann Neurol. 2011.
PMID: 21280092
Free PMC article.
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