A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement
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DOI: 10.1016/j.nmd.2019.03.011
Abstract: Recessive mutations in the MSTO1 gene, encoding for a mitochondrial distribution and morphology regulator, have been recently described in a very limited number of patients with multisystem involvement, mostly characterized by myopathy or dystrophy, cerebellar… read more here.
Keywords: msto1 gene; muscular dystrophy; dystrophy; progressive neurological ... See more keywords