Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families

Ana Cotta; Elmano Carvalho; Antonio Lopes da-Cunha-Junior; Monica M Navarro; Miriam M Menezes; Julia F Paim; Jaquelin Valicek; Maria Isabel Lima; Roberto Velloso-Filho; Maria Henriqueta Freire-Lyra; Reinaldo I Takata; Michio Inoue; Mariko Okubo; Aritoshi Iida; Ichizo Nishino

doi:10.1016/j.jns.2020.116977

Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families

J Neurol Sci. 2020 Aug 15:415:116977. doi: 10.1016/j.jns.2020.116977. Epub 2020 Jun 5.

Authors

Affiliations

¹ Department of Pathology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil. Electronic address: cotta@sarah.br.
² Department of Neurophysiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil. Electronic address: 9230@sarah.br.
³ Department of Radiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil.. Electronic address: 400564@sarah.br.
⁴ Department of Pediatrics and Genetics, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil. Electronic address: 400039@sarah.br.
⁵ Department of Neurology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil. Electronic address: 204794@sarah.br.
⁶ Department of Pathology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil. Electronic address: julia@sarah.br.
⁷ Department of Neurophysiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil. Electronic address: 400585@sarah.br.
⁸ Department of Electron Microscopy, SARAH Network of Rehabilitation Hospitals, Brasilia, (DF), Brazil. Electronic address: 204384@sarah.br.
⁹ Department of Radiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil.. Electronic address: 13018@sarah.br.
¹⁰ Department of Radiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil.. Electronic address: 400322@sarah.br.
¹¹ Department of Molecular Biology, SARAH Network of Rehabilitation Hospitals, Brasilia, (DF), Brazil. Electronic address: 202911@sarah.br.
¹² Department of Neuromuscular Research, National Institute of Neuroscience; and Department of Genome Medicine Development, Medical Genome Center; National Center of Neurology and Psychiatry (NCNP). 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan. Electronic address: inouem@ncnp.go.jp.
¹³ Department of Neuromuscular Research, National Institute of Neuroscience; and Department of Genome Medicine Development, Medical Genome Center; National Center of Neurology and Psychiatry (NCNP). 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan. Electronic address: ohkubom@ncnp.go.jp.
¹⁴ Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry (NCNP). 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan. Electronic address: iidaa@ncnp.go.jp.
¹⁵ Department of Neuromuscular Research, National Institute of Neuroscience; and Department of Genome Medicine Development, Medical Genome Center; National Center of Neurology and Psychiatry (NCNP). 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry (NCNP). 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan. Electronic address: nishino@ncnp.go.jp.

PMID: 32535249
DOI: 10.1016/j.jns.2020.116977

No abstract available

Keywords: Autophagic vacuolar myopathy; Muscle imaging; NGS; Ultrastructure; VMA21; XMEA.

Publication types

Letter

MeSH terms

Brazil
Humans
Muscle, Skeletal / metabolism
Muscular Diseases* / diagnostic imaging
Muscular Diseases* / genetics
Vacuolar Proton-Translocating ATPases* / metabolism

Substances

VMA21 protein, human
Vacuolar Proton-Translocating ATPases