1. LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD
- Author
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Tanya Stojkovic, Marion Masingue, Corinne Métay, Norma B. Romero, Bruno Eymard, Rabah Ben Yaou, Laetitia Rialland, Séverine Drunat, Corine Gartioux, Isabelle Nelson, Valérie Allamand, Gisèle Bonne, and Rocio Nur Villar-Quiles
- Subjects
Neurology ,Neurology (clinical) - 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.
- Published
- 2022