Early mechanical dysfunction of the diaphragm in the muscular dystrophy with myositis (Ttn(mdm)) model

A complex rearrangement mutation in the mouse titin gene leads to an in-frame 83-amino acid deletion in the N2A region of titin. Autosomal recessive inheritance of the titin muscular dystrophy with myositis (Ttn(mdm/mdm)) mutation leads to a severe early-onset muscular dystrophy and premature death....

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Detaylı Bibliyografya
Asıl Yazarlar: Lopez, Michael A., Pardo, Patricia S., Cox, Gregory A., Boriek, Aladin M.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Physiological Society 2008
Konular:
Muscle Cell Biology and Cell Motility
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2584999/
https://ncbi.nlm.nih.gov/pubmed/18753318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpcell.16.2008
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