Literature DB >> 24327385

LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy.

Sietske H Kevelam1, Baziel G M van Engelen, Carola G M van Berkel, Benno Küsters, Marjo S van der Knaap.   

Abstract

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Year:  2014        PMID： 24327385     DOI： 10.1002/mus.24147

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  2 in total

1.  Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.

Authors:  Francesca Magri; Roberta Brusa; Luca Bello; Lorenzo Peverelli; Roberto Del Bo; Alessandra Govoni; Claudia Cinnante; Irene Colombo; Francesco Fortunato; Roberto Tironi; Stefania Corti; Nadia Grimoldi; Monica Sciacco; Nereo Bresolin; Elena Pegoraro; Maurizio Moggio; Giacomo Pietro Comi
Journal:  Acta Myol       Date:  2020-06-01

2.  Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy.

Authors:  Lin Ge; Aijie Liu; Kai Gao; Renqian Du; Juan Ding; Bing Mao; Ying Hua; Xiaoli Zhang; Dandan Tan; Haipo Yang; Xiaona Fu; Yanbin Fan; Ling Zhang; Shujuan Song; Jian Wu; Feng Zhang; Yuwu Jiang; Xiru Wu; Hui Xiong
Journal:  Sci Rep       Date:  2018-10-09       Impact factor: 4.379
  2 in total

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