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Items: 4

1.

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

Pfeffer G, Sambuughin N, Olivé M, Tyndel F, Toro C, Goldfarb LG, Chinnery PF.

Neuromuscul Disord. 2014 Mar;24(3):241-4. doi: 10.1016/j.nmd.2013.12.001. Epub 2013 Dec 11.

2.

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.

Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y.

J Hum Genet. 2013 May;58(5):259-66. doi: 10.1038/jhg.2013.9. Epub 2013 Feb 28.

PMID:
23446887
3.

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.

Ohlsson M, Hedberg C, Brådvik B, Lindberg C, Tajsharghi H, Danielsson O, Melberg A, Udd B, Martinsson T, Oldfors A.

Brain. 2012 Jun;135(Pt 6):1682-94. doi: 10.1093/brain/aws103. Epub 2012 May 9.

4.

Titin mutation segregates with hereditary myopathy with early respiratory failure.

Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evilä A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF.

Brain. 2012 Jun;135(Pt 6):1695-713. doi: 10.1093/brain/aws102. Epub 2012 May 9.

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