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de Feraudy

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Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations - Genome Medicine

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By Norma Beatriz, CHU Strasbourg, de Feraudy
| Genome Medicine Verified
The present project focused on congenital myopathies. Patients were examined by clinicians from the French neuromuscular network FILNEMUS (www.filnemus.fr) or from their country of origin. All patients enrolling the study manifested either neonatal hypotonia or early- or late-onset muscle weakness, and most underwent muscle biopsies with histological analysis.
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