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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."xsd:string
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http://purl.uniprot.org/citations/26296490http://purl.uniprot.org/core/author"Edvardson S."xsd:string
http://purl.uniprot.org/citations/26296490http://purl.uniprot.org/core/author"Shaag A."xsd:string
http://purl.uniprot.org/citations/26296490http://purl.uniprot.org/core/author"Fellig Y."xsd:string
http://purl.uniprot.org/citations/26296490http://purl.uniprot.org/core/author"Daana M."xsd:string
http://purl.uniprot.org/citations/26296490http://purl.uniprot.org/core/author"Dor T."xsd:string
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http://purl.uniprot.org/citations/26296490http://purl.uniprot.org/core/date"2016"xsd:gYear
http://purl.uniprot.org/citations/26296490http://purl.uniprot.org/core/name"Muscle Nerve"xsd:string
http://purl.uniprot.org/citations/26296490http://purl.uniprot.org/core/pages"564-569"xsd:string
http://purl.uniprot.org/citations/26296490http://purl.uniprot.org/core/title"Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)."xsd:string
http://purl.uniprot.org/citations/26296490http://purl.uniprot.org/core/volume"53"xsd:string
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