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Article Dans Une Revue Journal of Neuromuscular Diseases Année : 2022

LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD

Résumé

We report three siblings from a non-consanguineous family presenting a 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.
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Dates et versions

hal-03860537 , version 1 (18-11-2022)

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Tanya Stojkovic, Marion Masingue, Corinne Métay, Norma Romero, Bruno Eymard, et al.. LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD. Journal of Neuromuscular Diseases, 2022, pp.1-9. ⟨10.3233/JND-221555⟩. ⟨hal-03860537⟩
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