@article {756,
	title = {Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.},
	journal = {Eur J Hum Genet},
	volume = {28},
	year = {2020},
	month = {2020 03},
	pages = {373-377},
	abstract = {<p>Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of disorders caused by mutations which lead to impaired neuromuscular transmission. SLC25A1 encodes a mitochondrial citrate carrier, associated mainly with the severe neurometabolic disease combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA). We previously reported a single family with a homozygous missense variant in SLC25A1 with a phenotype restricted to relatively mild CMS with intellectual disability, but to date no additional cases of this CMS subtype had been reported. Here, we performed whole exome sequencing (WES) in three additional and unrelated families presenting with CMS and mild intellectual disability to identify the underlying causative gene. The WES analysis revealed the presence of a homozygous c.740G>A; p.(Arg247Gln) missense SLC25A1 variant, the same SLC25A1 variant as identified in the original family with this phenotype. Electron microscopy of muscle from two cases revealed enlarged and accumulated mitochondria. Haplotype analysis performed in two unrelated families suggested that this variant is a result of recurrent mutation and not a founder effect. This suggests that p.(Arg247Gln) is associated with a relatively mild CMS phenotype with subtle mitochondrial abnormalities, while other variants in this gene cause more severe neurometabolic disease. In conclusion, the p.(Arg247Gln) SLC25A1 variant should be considered in patients presenting with a presynaptic CMS phenotype, particularly with accompanying intellectual disability.</p>},
	keywords = {Adult, Female, Haplotypes, Homozygote, Humans, Intellectual Disability, Male, Mitochondrial Proteins, Muscle, Skeletal, Mutation, Missense, Myasthenic Syndromes, Congenital, Organic Anion Transporters},
	issn = {1476-5438},
	doi = {10.1038/s41431-019-0506-2},
	author = {Balaraju, Sunitha and Topf, Ana and McMacken, Grace and Kumar, Veeramani Preethish and Pechmann, Astrid and Roper, Helen and Vengalil, Seena and Polavarapu, Kiran and Nashi, Saraswati and MAHjan, Niranjan Prakash and Barbosa, Ines A and Deshpande, Charu and Taylor, Robert W and Cossins, Judith and Beeson, David and Laurie, Steven and Kirschner, Janbernd and Horvath, Rita and McFarland, Robert and Nalini, Atchayaram and Lochm{\"u}ller, Hanns}
}
@article {973,
	title = {Four Individuals with a Homozygous Mutation in Exon 1f of the  Gene and Associated Myasthenic Features.},
	journal = {Genes (Basel)},
	volume = {11},
	year = {2020},
	month = {2020 06 27},
	abstract = {<p>We identified the known c.1_9del mutation in the  gene in four unrelated females from consanguineous families of Turkish origin. All individuals presented with slowly progressive limb-girdle weakness without any dermatological findings, and dystrophic changes observed in their muscle biopsies. Additionally, the neurological examination revealed ptosis, facial weakness, fatigability, and muscle cramps in all four cases. In two patients, repetitive nerve stimulation showed a borderline decrement and a high jitter was detected in all patients by single-fiber electromyography. Clinical improvement was observed after treatment with pyridostigmine and salbutamol was started. We further characterize the phenotype of patients with limb-girdle muscular dystrophy R17 clinically, by muscle magnetic resonance imaging (MRI) features and by describing a common 3.8 Mb haplotype in three individuals from the same geographical region. In addition, we review the neuromuscular symptoms associated with  mutations and the role of plectin in the neuromuscular junction.</p>},
	keywords = {Adolescent, Adult, Child, Exons, Female, Homozygote, Humans, Muscular Dystrophies, Limb-Girdle, Mutation, Myasthenic Syndromes, Congenital, Phenotype, Plectin},
	issn = {2073-4425},
	doi = {10.3390/genes11070716},
	author = {Mroczek, Magdalena and Durmus, Hacer and Topf, Ana and Parman, Yesim and Straub, Volker}
}
