Medecine sciences : M/SHumansMutationPhenotypeMaleHigh-Throughput Nucleotide Sequencing
[The MYOCAPTURE project: Capturing the elusive mutations behind congenital myopathies].
Yvan de Feraudy, Jocelyn Laporte
Published: 202510.1051/medsci/2025180
Abstract
A significant number of patients with congenital myopathy remain undiagnosed, complicating their clinical management, genetic counseling, and limiting access to therapeutic trials or existing treatments. This study, conducted as part of the MYOCAPTUR…
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