Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

doi:10.1136/jnnp-2012-304728

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Article

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

Journal of neurology, neurosurgery, and psychiatry - 1 Mar 2014

Pfeffer Gerald, Barresi Rita, Wilson Ian J, Hardy Steven A, Griffin Helen, Hudson Judith, Elliott Hannah R, Ramesh Aravind V, Radunovic Aleksandar, Winer John B, Vaidya Sujit, Raman Ashok, Busby Mark, Farrugia Maria E, Ming Alec, Everett Chris, Emsley Hedley C A, Horvath Rita, Straub Volker, Bushby Kate, Lochmüller Hanns, Chinnery Patrick F, Sarkozy Anna

Abstract excerpt

OBJECTIVE: Titin gene (TTN) mutations have been described in eight families with hereditary myopathy with early respiratory failure (HMERF). Some of the original patients had features resembling myofibrillar myopathy (MFM), arguing that TTN mutations could be a much more common cause of inherited muscle disease, especially in presence of early respiratory involvement. METHODS: We studied 127 undiagnosed patients...

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PMID: 23486992
DOI: 10.1136/jnnp-2012-304728
PMCID: PMC6558248

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