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Article

Spinal muscular atrophy carriers with two SMN1 copies.

Brain & development - 1 Nov 2017

Ar Rochmah Mawaddah, Awano Hiroyuki, Awaya Tomonari, Harahap Nur Imma Fatimah, Morisada Naoya, Bouike Yoshihiro, Saito Toshio, Kubo Yuji, Saito Kayoko, Lai Poh San, Morioka Ichiro, Iijima Kazumoto, Nishio Hisahide, Shinohara Masakazu

Abstract excerpt

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. Over 95% of SMA patients have homozygous deletions of the SMA-causative gene, SMN1. Thus, SMA carriers are usually diagnosed based on SMN1 copy number, with one copy indicating SMA carrier status. However, two SMN1 copies do not always exclude carrier status. In this study, we identified SMA carriers with two SMN1 copies....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28676237
DOI: 10.1016/j.braindev.2017.06.002

Genes

SMN1

Variants

Provenance

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