Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type.
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A. Tylki-Szymańska | T. Kmieć | E. Jurkiewicz | B. Czartoryska | A. Ługowska | K. Szymańska | Iwona Tarczyńska