Severe congenital myasthenic syndrome with novel variants in the CHRND gene

Pediatr Int. 2022 Jan;64(1):e15342. doi: 10.1111/ped.15342.

Authors

Hidehito Kondo¹, Yukiko Tsuji², Tomoko Lee³, Yoshihiko Saito⁴, Ichizo Nishino⁴

Affiliations

¹ Department of Pediatrics and Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto City, Japan.
² Department of Neurology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
³ Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan.
⁴ Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Kodaira, Japan.

PMID: 36370373
DOI: 10.1111/ped.15342

No abstract available

Keywords: CHRND; 3,4-diaminopyridine; congenital myasthenic syndrome; pyridostigmine.

MeSH terms

Humans
Myasthenic Syndromes, Congenital* / diagnosis
Myasthenic Syndromes, Congenital* / genetics
Receptors, Cholinergic / genetics

Substances

CHRND protein, human
Receptors, Cholinergic