Articles with "presenting duchenne" as a keyword



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Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India

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Published in 2019 at "Indian Pediatrics"

DOI: 10.1007/s13312-019-1553-z

Abstract: To study the histopathological characteristics and mutation spectrum of patients presenting with the Duchenne muscular dystrophy (DMD) phenotype. This was a descriptive study conducted over a period of 8 years. Multiplex ligation-dependent probe amplification (MLPA)… read more here.

Keywords: phenotype; patients presenting; muscular dystrophy; presenting duchenne ... See more keywords