Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3-associated leukodystrophy

Nikam, RM; Gripp, KW; Choudhary, AK; Kandula, V

Nikam, RM (reprint author), Nemours AI duPont Hosp Children, Dept Med Imaging, 1600 Rockland Rd, Wilmington, DE 19803 USA.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018; 176 (12): 2787

Abstract

Multiple mitochondrial dysfunction syndrome (MMDS) is a rare disorder of systemic energy metabolism associated with mutations in genes having a vital ......

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