A case of congenital myopathy accompanied by tremor due to a MYBPC1 mutation

Pediatr Int. 2022 Jan;64(1):e15061. doi: 10.1111/ped.15061.

Authors

Kazuhiro Shiraishi¹, Rie S Tsuburaya², Shoichi Mukaida¹, Naoko Yano³, Takeshi Yoshida³

Affiliations

¹ Department of Pediatrics, Utano National Hospital, Kyoto City, Japan.
² Department of Rehabilitation Medicine, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto City, Japan.
³ Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto City, Japan.

PMID: 35510679
DOI: 10.1111/ped.15061

No abstract available

Keywords: MYOTREM; congenital myopathy; slow skeletal isoform of myosin binding protein C gene (MYBPC1); tremor; whole exome sequencing.

Publication types

Case Reports

MeSH terms

Humans
Muscle, Skeletal
Muscular Diseases*
Mutation
Pedigree
Tremor* / etiology
Tremor* / genetics