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Article

Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy.

The Kobe journal of medical sciences - 16 Oct 2017

Ar Rochmah Mawaddah, Shima Ai, Harahap Nur Imma Fatimah, Niba Emma Tabe Eko, Morisada Naoya, Yanagisawa Shinichiro, Saito Toshio, Kaneko Kaori, Saito Kayoko, Morioka Ichiro, Iijima Kazumoto, Lai Poh San, Bouike Yoshihiro, Nishio Hisahide, Shinohara Masakazu

Abstract excerpt

BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a mutation in SMN1. SMA is classified into three subtypes (types 1, 2, 3) based on achieved motor milestones. Although NAIP and SMN2 are widely accepted as SMA-modifying factors, gender-related modifying factors or gender effects on the clinical phenotype are still controversial. METHODS: A total of 122 Japanese patients with SMA, of...

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Source

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Identifiers

PMID: 29434173
PMCID: PMC5826018

Genes

NAIP
SMN2
SMN1

Provenance

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Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy.PMID 29434173Read ↗

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