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Article

A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Jun 2021

Santin Ricardo, Vieira Igor Araujo, Nunes Jean Costa, Benevides Maria Luiza, Quadros Fernanda, Brusius-Facchin Ana Carolina, Macedo Gabriel, Bertoni Ana Paula Santin

Abstract excerpt

Pathogenic germline variants in DMD gene, which encodes the well-known cytoskeletal protein named dystrophin, are associated with a wide range of dystrophinopathies disorders, such as Duchenne muscular dystrophy (DMD, severe form), Becker muscular dystrophy (BMD, mild form) and intermediate muscular dystrophy (IMD). Muscle biopsy, immunohistochemistry, molecular (multiplex ligation-dependent probe amplification...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34355126
DOI: 10.36185/2532-1900-048
PMCID: PMC8290513

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