Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient.
gene analysis
muscle biopsy
myotonic dystrophy type 2
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
15 Oct 2023
15 Oct 2023
Historique:
medline:
15
11
2023
pubmed:
16
2
2023
entrez:
15
2
2023
Statut:
ppublish
Résumé
We herein report a Japanese patient with myotonic dystrophy type 2 (DM2), which is rare in Japan. A 64-year-oldman had proximal muscle weakness and grip myotonia. Electromyography showed myotonic discharges, but dystrophia-myotonica protein kinase (DMPK) was negative for CTG repeats. A muscle biopsy revealed increased central nuclei, pyknotic nuclear clumps and muscle fiber atrophy, mainly in type 2 fibers, raising the possibility of DM2. The diagnosis was genetically confirmed by the abnormal CCTG repeat size in cellular nucleic acid-binding protein (CNBP) on repeat-primed polymerase chain reaction, which was estimated to be around 4,500 repeats by Southern blotting.
Identifiants
pubmed: 36792202
doi: 10.2169/internalmedicine.0425-22
pmc: PMC10641181
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3027-3031Références
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