What is the role of titin in the etiology of centronuclear myopathies (CNMs)?

Updated: Mar 11, 2019
  • Author: Matthew Harmelink, MD; Chief Editor: Amy Kao, MD  more...
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Answer

CNM from titin

Mutations in titin can cause a wide variety of phenotypes. [45] There are cases presenting from birth to 3 years of age with decreased fetal movements, hypotonia, weakness, and respiratory difficulty. Patients typically have more proximal muscle weakness, but there is wide variety of functionality. In most patients there is facial weakness [45] , and in some patients cardiac involvement. [46]

Titin has also been associated with limb-girdle muscular dystrophy type 2J.


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