An infant case of diffuse cerebrospinal lesions and cardiomyopathy caused by a BOLA3 mutation
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DOI: 10.1016/j.braindev.2018.02.004
Abstract: INTRODUCTION Mitochondrial dysfunction results in a wide range of organ disorders through diverse genetic abnormalities. We herein present the detailed clinical course of an infant admitted for extensive, rapidly progressing white matter lesions and hypertrophic… read more here.
Keywords: mutation; matter lesions; bola3 gene; case ... See more keywords