We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
- Authors
Stojkovic, Tanya; Masingue, Marion; Métay, Corinne; Romero, Norma B.; Eymard, Bruno; Ben Yaou, Rabah; Rialland, Laetitia; Drunat, Séverine; Gartioux, Corine; Nelson, Isabelle; Allamand, Valérie; Bonne, Gisèle; Villar-Quiles, Rocio Nur
- Abstract
We report three siblings from a non-consanguineous family presenting with contractural limb-girdle phenotype with intrafamilial variability. Muscle MRI showed posterior thigh and quadriceps involvement with a sandwich-like sign. Whole-exome sequencing identified two compound heterozygous missense TTN variants and one heterozygous LAMA2 variant. Brain MRI performed because of concentration difficulties in one of the siblings evidenced white-matter abnormalities, subsequently found in the others. The genetic analysis was re-oriented, revealing a novel pathogenic intronic LAMA2 variant which confirmed the LAMA2-RD diagnosis. This work highlights the importance of a thorough clinical phenotyping and the importance of brain imaging, in order to orientate and interpret the genetic analysis.
- Publication
Journal of Neuromuscular Diseases, 2023, Vol 10, Issue 1, p125
- ISSN
2214-3599
- Publication type
Article
- DOI
10.3233/JND-221555