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 those of myotonic dystrophy (DM) in biopsied muscle specimens from a patient with NDMs with a long disease duration.

Case presentation

A 66-year-old Japanease man presented eye closure myotonia, percussion myotonia and grip myotonia together with the warm-up phenomenon and cold aggravation from early childhood. On genetic analysis, a heterozygous mutation of the SCN4A gene (c.2065 C > T, p.L689F), with no mutation of the CLCN1, DMPK, or ZNF9/CNBP gene, was detected. He was diagnosed as having

SUBMITTER: Hata T 

PROVIDER: S-EPMC6560775 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature