Abstract:
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 | NM_003283) leading to C-terminal truncation of the protein (p.L203* | 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.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Abdulhaq UN,Daana M,Dor T,Fellig Y,Eylon S,Schuelke M,Shaag A,Elpeleg O,Edvardson Sdoi
10.1002/mus.24885subject
Has Abstractpub_date
2016-04-01 00:00:00pages
564-9issue
4eissn
0148-639Xissn
1097-4598journal_volume
53pub_type
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