Novel autosomal dominant TNNT1 mutation causing nemaline myopathy
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منابع مشابه
Novel autosomal dominant TNNT1 mutation causing nemaline myopathy
BACKGROUND Nemaline myopathy (NEM) is one of the three major forms of congenital myopathy and is characterized by diffuse muscle weakness, hypotonia, respiratory insufficiency, and the presence of nemaline rod structures on muscle biopsy. Mutations in troponin T1 (TNNT1) is 1 of 10 genes known to cause NEM. To date, only homozygous nonsense mutations or compound heterozygous truncating or inter...
متن کاملNemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).
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 mutatio...
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1. Cheek DB, Perry JW. A salt wasting syndrome in infancy. Arch Dis Child. 1958;33:252--6. 2. Hanukoglu A. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab. 1991;73:936--44. 3. Bonny O, Rossier BC. Disturbances of Na/K balance: pseudohypoaldosteronism revisited. J Am Soc Nephrol. ...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2017
ISSN: 2324-9269
DOI: 10.1002/mgg3.325