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

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 those of my...

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Detalles Bibliográficos
Autores principales: Hata, Takanori, Nagasaka, Takamura, Koh, Kishin, Tsuchiya, Mai, Ichinose, Yuta, Nan, Haitian, Shindo, Kazumasa, Takiyama, Yoshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6560775/
https://www.ncbi.nlm.nih.gov/pubmed/31189464
http://dx.doi.org/10.1186/s12883-019-1360-0