A novel deep intronic variant in LAMA2 identified by RNA sequencing

Author:

Djordjevic Djurdja,Alawneh IssaORCID,Amburgey Kimberly,Yuki Kyoko E.,Kyriakopoulou Lianna G,Navickiene Vilma,Stavropoulos Jim,Yoon Grace,Dowling James J,Gonorazky Hernan

Publisher

Elsevier BV

Reference10 articles.

1. LAMA2-related dystrophies: clinical phenotypes, disease biomarkers, and clinical trial readiness;Sarkozy;Front Mol Neurosci,2020

2. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing;Cummings;Sci Transl Med,2017

3. LAMA2 gene mutation update: toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes;Oliveira;Hum Mutat,2018

4. LAMA2 muscular dystrophy;Oliveira,2012

5. https://neuromuscular.wustl.edu/pathol/diagrams/musclemri.htm#lama2. Last accessed December 16, 2023.

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