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A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement

Ardicli, D; Sarkozy, A; Zaharieva, I; Deshpande, C; Bodi, I; Siddiqui, A; U-King-Im, JM; ... Muntoni, F; + view all (2019) A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement. Neuromuscular Disorders , 29 (6) pp. 448-455. 10.1016/j.nmd.2019.03.011.

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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 ataxia, pigmentary retinopathy and raised creatine kinase levels. Here we report an additional patient with recessive MSTO1-related muscular dystrophy (MSTO1-RD), and clinical and radiological evidence of progressive cerebellar involvement. Whole-exome sequencing identified two novel MSTO1 missense variants, c.766C > T (p. (Arg256Trp) and c.1435C > T (p. (Pro479Ser), predicted as damaging by in silico tools. We also report a distinct pattern of selective involvement on muscle MRI in MSTO1-RD. This case confirms a consistent MSTO1-related neuromuscular phenotype and in addition suggests a progressive neurological component at least in some patients, in keeping with the mitochondrial role of the defective protein.

Type: Article
Title: A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement
DOI: 10.1016/j.nmd.2019.03.011
Publisher version: https://doi.org/10.1016/j.nmd.2019.03.011
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Muscular dystrophy, Ataxia, MSTO1, Cerebellar atrophy, Progressive cerebellar involvement
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: https://discovery.ucl.ac.uk/id/eprint/10082579
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