Titin Founder Mutation is a Common cause of Myofibrillar Myopathy with Early Respiratory Failure

OBJECTIVE: Titin gene (TTN) mutations have been described in 8 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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:J Neurol Neurosurg Psychiatry
المؤلفون الرئيسيون: Pfeffer, Gerald, Barresi, Rita, Wilson, Ian J, Hardy, Steven A, Griffin, Helen, Hudson, Judith, Elliott, Hannah R, Ramesh, Aravind V, Radunovic, Aleksandar, Winer, John, Vaidya, Sujit, Raman, Ashok, Busby, Mark, Farrugia, Maria E, Ming, Alec, Everett, Chris, Emsley, Hedley CA, Horvath, Rita, Straub, Volker, Bushby, Kate, Lochmüller, Hanns, Chinnery, Patrick F, Sarkozy, Anna
التنسيق: Artigo
اللغة:Inglês
منشور في: 2014
الموضوعات:
Article
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC6558248/
https://ncbi.nlm.nih.gov/pubmed/23486992
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2012-304728
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