A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement
Author:
Funder
Muscular Dystrophy Association
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference10 articles.
1. Diagnostic approach to the congenital muscular dystrophies;Bonnemann;Neuromuscul Disord NMD,2014
2. Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy;Iwama;J Human Genet,2018
3. MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans;Gal;EMBO Mol Med,2017
4. Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia;Nasca;Human Mutat,2017
5. Human Misato regulates mitochondrial distribution and morphology;Kimura;Exp Cell Res,2007
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1. Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia;Frontiers in Neurology;2022-11-17
2. Mitochondrial Fission and Fusion: Molecular Mechanisms, Biological Functions, and Related Disorders;Membranes;2022-09-16
3. Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants;Frontiers in Genetics;2022-08-11
4. A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy;Journal of Human Genetics;2021-02-22
5. Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches;Genes;2021-02-10
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