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A Novel Mutation of HINT1 Gene in an Adolescent Female with Axonal Neuropathy and Neuromyotonia

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dc.contributor.authorKARA, BÜLENT
dc.contributor.authorGul, Sedat
dc.contributor.authorGunes, Ayfer Sakarya
dc.contributor.authorMÜLAYİM, SERAP
dc.contributor.authorYEŞİL, Gözde
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2021-06-08T20:59:09Z
dc.date.available2021-06-08T20:59:09Z
dc.date.issued2021-06-01T00:00:00Z
dc.description.abstractHINT1 gene mutations cause an axonal neuropathy with some specific findings including presence of neuromyotonia, autosomal recessive inheritance, onset in the first decade, and primary motor involvement. In this case report, we described an 18-year-old female patient who presented to the clinic with gait instability and muscle stiffness. A homozygous novel c.180_181delAT (p.Ser61Profs*8) variant in the HINT1 gene was found by clinical exome analysis. Parents were heterozygous for the same variant. The patient was diagnosed with autosomal recessive axonal neuropathy with neuromyotonia. The presence of neuromyotonia must be evaluated in patients with hereditary axonal neuropathies as this can help the diagnosis prior to genetic testing.
dc.identifier.citationKARA B., Gul S., Gunes A. S. , MÜLAYİM S., YEŞİL G., -A Novel Mutation of HINT1 Gene in an Adolescent Female with Axonal Neuropathy and Neuromyotonia-, JOURNAL OF PEDIATRIC NEUROLOGY, cilt.19, sa.3, ss.180-182, 2021
dc.identifier.doi10.1055/s-0040-1710511
dc.identifier.urihttp://hdl.handle.net/20.500.12645/28970
dc.identifier.wosWOS:000656283300007
dc.titleA Novel Mutation of HINT1 Gene in an Adolescent Female with Axonal Neuropathy and Neuromyotonia
dc.typeArticle
dspace.entity.typePublication
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local.publication.isinternational1
relation.isAuthorOfPublicationb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70
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