Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report

Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report

Abstract Background Non-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that the muscle pathology is usually normal or comprises mild myopathic changes in NDMs. We describe various pathological findings mimicking tho...

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Bibliographic Details
Main Authors: Takanori Hata, Takamura Nagasaka, Kishin Koh, Mai Tsuchiya, Yuta Ichinose, Haitian Nan, Kazumasa Shindo, Yoshihisa Takiyama
Format: Article
Language:English
Published: BMC 2019-06-01
Series:BMC Neurology
Subjects:
Non-dystrophic myotonia
Myotonic dystrophy
Muscle biopsy
SCN4A
Online Access:http://link.springer.com/article/10.1186/s12883-019-1360-0

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http://link.springer.com/article/10.1186/s12883-019-1360-0

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