Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.

doi:10.1016/j.braindev.2013.11.009

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Article

Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.

Brain & development - 1 Nov 2014

Yamamoto Tomoto, Sato Hideyuki, Lai Poh San, Nurputra Dian Kesumapramudya, Harahap Nur Imma Fatimah, Morikawa Satoru, Nishimura Noriyuki, Kurashige Takashi, Ohshita Tomohiko, Nakajima Hideki, Yamada Hiroyuki, Nishida Yoshinobu, Toda Soichiro, Takanashi Jun-Ichi, Takeuchi Atsuko, Tohyama Yumi, Kubo Yuji, Saito Kayoko, Takeshima Yasuhiro, Matsuo Masafumi, Nishio Hisahide

Abstract excerpt

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by deletion or intragenic mutation of SMN1. SMA is classified into several subtypes based on clinical severity. It has been reported that the copy number of SMN2, a highly homologous gene to SMN1, is associated with clinical severity among SMA patients with homozygous deletion of SMN1. The purpose of this study was...

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Identifiers

PMID: 24359787
DOI: 10.1016/j.braindev.2013.11.009

Genes

SMN1
SMN2

Variants

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