Identification of a novel nemaline myopathy‐Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish |
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| Authors: | Jonathan D Marra MA Kristin E Engelstad MS CGC Arunkanth Ankala MSc PhD Kurenai Tanji MD PhD Jahannaz Dastgir DO Darryl C De Vivo MD Bradford Coffee PhD Claudia A Chiriboga MD MPH |
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| Institution: | 1. Department of Neurology, Columbia University, New York, New York, USA;2. Emory Genetics Laboratory, Emory University School of Medicine, Atlanta, Georgia, USA;3. Department of Pathology & Cell Biology, Columbia University, New York, New York, USA;4. Department of Pediatrics, Columbia University, New York, New York, USA |
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| Abstract: | Introduction: Nemaline myopathy (NM) is a congenital neuromuscular disorder often characterized by hypotonia, facial weakness, skeletal muscle weakness, and the presence of rods on muscle biopsy. A rare form of nemaline myopathy known as Amish Nemaline Myopathy has only been seen in a genetically isolated cohort of Old Order Amish patients who may additionally present with tremors in the first 2–3 months of life. Methods: We describe an Hispanic male diagnosed with nemaline myopathy histopathologically and subsequently confirmed by next generation gene sequencing. Results: Direct sequencing revealed that he is homozygous for a pathogenic nonsense variant c.323C>G (p.S108X) in exon 9 of the TNNT1 gene. Conclusions: This report describes a novel pathogenic variant in the TNNT1 gene and represents a nemaline myopathy‐causing variant in the TNNT1 gene outside of the Old Order Amish and Dutch ancestry. Muscle Nerve 51 :767–772, 2015 |
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| Keywords: | Amish nemaline myopathy (ANM) congenital myopathy nemaline myopathy TNNT1 slow skeletal muscle troponin T1 |
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