Abstract

Congenital myopathies are a heterogeneous group of rare inherited muscle disorders. Despite the good sensitivity of whole-exome sequencing in detecting pathogenic variants, many cases remain molecularly unsolved. Here, we present the case of a woman with congenital myopathy that remained unsolved for many years, in which the application of whole-genome sequencing enabled the identification of a novel deep intronic mutation in the MYH7 gene.

A 22-year-old woman developed muscle weakness since infancy, with frequent falls, toe-walking, and difficulty climbing stairs. Muscle biopsy revealed atrophy of type 1 fibers relative to type 2, consistent with fiber-type disproportion. After a long “molecular odyssey,” whole-genome sequencing performed on the patient–parents trio identified a de novo deep intronic variant in MYH7.

This case further underscores the importance of pursuing the search for the causative gene to enable more accurate clinical monitoring and tailored health care.

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Authors

Andrea Barp - NeuroMuscular Omnicentre (NeMO) Trento, Azienda Provinciale per i Servizi Sanitari (APSS), Pergine Valsugana (TN), Italy

Luca Maria Neri - Department of Translational Medicine, University of Ferrara, Ferrara (FE), Italy

Lorenzo Maggi - Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Via Celoria 11, 20133 Milano (MI), Italy.

Maria Iascone - Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo (BG), Italy

Francesca Gualandi - Unit of Medical Genetics, Department of Mother and Child, University Hospital S. Anna Ferrara, Ferrara (FE), Italy

How to Cite
Barp, A., Neri, L. M., Maggi, L., Iascone, M., & Gualandi, F. . (2025). A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies. Acta Myologica, 44(3). https://doi.org/10.36185/2532-1900-1282
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