Susana Quijano-Roy, Jana Haberlova, Claudia Castiglioni, John Vissing, Francina Munell, François Rivier, Tanya Stojkovic, Edoardo Malfatti, Marta Gómez García de la Banda, Giorgio Tasca, Laura Costa Comellas, Audrey Benezit, Helge Amthor, Ivana Dabaj, Clara Gontijo Camelo, Pascal Laforêt, John Rendu, Norma B Romero, Eliana Cavassa, Fabiana Fattori, Christophe Beroud, Jana Zídková, Nicolas Leboucq, Nicoline Løkken, Ángel Sanchez-Montañez, Ximena Ortega, Martin Kynčl, Corinne Metay, David Gómez-Andrés, Robert Y Carlier
BACKGROUND: LAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies caused by mutations in the LAMA2 gene, which codes for the alpha-2 chain of laminin-211 (merosin). Diagnosis is straightforward in the classic congenital presentation with no ambulation and complete merosin deficiency in muscle biopsy, but is far more difficult in milder ambulant individuals with partial merosin deficiency. OBJECTIVE: To investigate the diagnostic utility of muscle imaging in LAMA2-RD using whole-body magnetic resonance imaging (WBMRI)...
May 2022: Journal of Neurology