Journal
MUSCLE & NERVE
Volume 53, Issue 4, Pages 564-569Publisher
WILEY
DOI: 10.1002/mus.24885
Keywords
autozygosity mapping; congenital myopathy; nemaline body myopathy; TNNT1; whole exome sequencing
Categories
Funding
- Einstein Stiftung Berlin, Germany [A-2011-63]
Ask authors/readers for more resources
Introduction: Nemaline myopathy is a rare disorder characterized by skeletal muscle weakness of varying severity and onset, with the presence of nemaline rods on muscle biopsy. Congenital nemaline body myopathy due to mutations in TNNT1 has hitherto only been described as a result of a single founder mutation in patients of Amish origin and in 2 other individuals with different recessive mutations. Methods: Autozygosity mapping and whole exome sequencing were applied after we identified 9 Palestinian patients from 7 unrelated families who have nemaline myopathy. Results: All patients were homozygous for a novel complex rearrangement of the TNNT1 gene (c.574_577delinsTAGTGCTGT vertical bar NM_003283) leading to C-terminal truncation of the protein (p.L203* vertical bar NP_003274.3). Their clinical course was remarkable for early respiratory failure and striking stiffness of the cervical spine. Conclusions: This report exemplifies the utility of combining autozygosity mapping and whole exome sequencing and expands the phenotype associated with TNNT1 mutations.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available