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Introduction: MYH7 gene mutations are related to a heterogeneous group of skeletal and cardiac myopathies. Methods: We evaluated clinical and muscle MRI changes in patients with mutations in the rod domain of MYH7, including 1 with mosaicism and 3 with novel missense mutations. Results: Patients presented in childhood with a distal and axial phenotype. Biopsy findings were variable. Half of the cases...
IntroductionWe sought to define the whole‐body MRI (WB‐MRI) fingerprint of muscle involvement in pediatric LMNA‐related dystrophy (LMNA‐RD) and to compare it with SEPN1‐related myopathy (SEPN1‐RM).
MethodsSignal abnormality and atrophy in 109 muscles were scored by semiquantitative scales in 8 children with LMNA‐RD and represented by heatmaps. These features were compared with those from 9 SEPN1‐RM...
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