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

ABSTRACT:

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 with clinical presentation compatible with MFM. Sanger sequencing for the two previously described TTN mutations in HMERF (p.C30071R in the 119th fibronectin-3 (FN3) domain, and p.R32450W in the kinase domain) was performed in all patients. Patients with mutations had detailed review of their clinical records, muscle MRI findings and muscle pathology.

Results

We

SUBMITTER: Pfeffer G 

PROVIDER: S-EPMC6558248 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature