UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

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. Green open access

[img]
Preview
Text
181202 MSTO1 case report .pdf - Accepted version

Download (837kB) | Preview

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
Open access status: An open access version is available from UCL Discovery
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
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 Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10082579
Downloads since deposit
13Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item