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Article

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

Journal of human genetics - 1 May 2013

Izumi Rumiko, Niihori Tetsuya, Aoki Yoko, Suzuki Naoki, Kato Masaaki, Warita Hitoshi, Takahashi Toshiaki, Tateyama Maki, Nagashima Takeshi, Funayama Ryo, Abe Koji, Nakayama Keiko, Aoki Masashi, Matsubara Yoichi

Abstract excerpt

Myofibrillar myopathy (MFM) is a group of chronic muscular disorders that show the focal dissolution of myofibrils and accumulation of degradation products. The major genetic basis of MFMs is unknown. In 1993, our group reported a Japanese family with dominantly inherited cytoplasmic body myopathy, which is now included in MFM, characterized by late-onset chronic progressive distal muscle weakness and early...

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Identifiers

PMID: 23446887
DOI: 10.1038/jhg.2013.9

Genes

TTN

Variants

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