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Your search keyword '"Lochmüller, H."' showing total 217 results
Start Over Author "Lochmüller, H." Publisher elsevier b.v.
217 results on '"Lochmüller, H."'

10. I.01Congenital myasthenic syndromes.

Author

Lochmüller, H.

Subjects
*CONGENITAL myasthenic syndromes, *MITOCHONDRIAL DNA, *MYASTHENIA gravis, *NEUROMUSCULAR transmission, *NEUROMUSCULAR diseases, *EYE muscles
Abstract

Neuromuscular junction disorders are a heterogeneous group of acquired (Myasthenia Gravis, MG) and inherited (Congenital Myasthenic Syndromes, CMS) disorders associated with distinctive clinical, electrophysiological, laboratory and ultrastructural abnormalities. The genetic defects in CMS either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission. More recently, we have identified two genes (DOK7, GFPT1) that cause fatigable weakness of muscles in a limb-girdle distribution, but rarely affecting facial or eye muscles. Next-generation sequencing and deep phenotyping, in combination with international data sharing, reveals new genetic causes of CMS, but also unusual, overlapping clinical phenotypes, which blur the boundaries with primary myopathies and motor neuropathies. Mitochondrial dysfunction has been implicated with both myopathies and neuromuscular transmission defects. TEFM is a nuclear gene that codes for a mitochondrial transcription elongation factor – the protein responsible for prolonging activity of RNA polymerase to ensure distal transcripts of the mitochondrial genome are transcribed. We identified the first human TEFM variants associated with mitochondrial respiratory chain deficiency in seven patients with varying clinical presentations. While symptoms included classical features of a mitochondrial disease, some patients also presented with a treatable neuromuscular transmission defect. We will cover the significant progress made in understanding the molecular pathogenesis of CMS, which is important for both patients and clinicians in terms of reaching a definite diagnosis and selecting the most appropriate treatment. [ABSTRACT FROM AUTHOR]

Published
2022
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11. G.O.19: Results of a phase II study to assess safety and efficacy of olesoxime (TRO19622) in 3–25 years old spinal muscular atrophy patients

Author

Dessaud, E., André, C., Scherrer, B., Berna, P., Pruss, R., Cuvier, V., Hauke, W., Bruno, C., Chabrol, B., Comi, G., Cuisset, J.M., Deconinck, N., Goemans, N., Estournet, B., Fontaine-Carbonel, S., Gorni, K., Kirschner, J., Lusakowska, A., Lochmuller, H., Mayer, M., Mercuri, E., Müller-Felber, W., Muntoni, F., Rivier, F., Roper, H., Schara, U., den Berg, L. Van, Vita, G., Walter, M., and Bertini, E.

Published
2014
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22. G.O.7 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Author

Guergueltcheva, V., Peeters, K., Baets, J., Ceuterick-de Groote, C., Martin, J.J., Suls, A., Vriendt, E.D., Mihaylova, V., Chamova, T., Almeida-Souza, L., Ydens, E., Tzekov, C., Hadjidekov, G., Gospodinova, M., Storm, K., Reyniers, E., Bichev, S., van der Ven, P.F.M., Furst, D.O., Mitev, V., Lochmuller, H., Timmerman, V., Tournev, I., De Jonghe, P., and Jordanova, A.

Published
2012
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24. Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants.

Author

Barisic, N., Müller, J.S., Paucic-Kirincic, E., Gazdik, M., Lah-Tomulic, K., Pertl, A., Sertic, J., Zurak, N., Lochmüller, H., and Abicht, A.

Subjects
GENETIC disorders, GENES, GENETIC mutation, APNEA, RESPIRATION, CHILDREN
Abstract

Summary: Congenital myasthenic syndromes (CMS) result from mutations in various synapse-associated genes. Mutations in the choline acetyltransferase (CHAT) gene cause a presynaptic CMS associated with episodic apnea (CMS-EA). We present two unrelated Croatian children affected by CMS-EA. Beside other clinical findings characteristic for CMS, both patients manifested intermittent apneas since early infancy. Whereas the course of disease is mild in the female patient (patient 2), the male patient (patient 1) experienced recurrent and severe episodes of apnea despite adequate treatment with AChE-inhibitors and shows a global developmental delay with delayed myelination and signs of hypoxic–ischemic injury in brain imaging. Interestingly, sequencing of the CHAT gene revealed identical, compound heterozygous mutations S694C and T354M in both children. These findings are in line with a remarkable clinical heterogeneity observed in patients with CHAT mutations and emphasize the potential role of apneic crises for the development of secondary hypoxic brain damage and psychomotor retardation. [Copyright &y& Elsevier]

Published
2005
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41. P.178 - A phase 3 randomized, double blind, placebo-controlled study to evaluate the efficacy and safety of sialic acid extended-release tablets in patients with GNE myopathy (GNEM).

Author

Lochmüller, H., Behin, A., Caraco, Y., Lau, H., Mirabella, M., Tournev, I., Tarnopolsky, M., Pogoryelova, O., Shah, J., Koutsoubos, T., Skrinar, A., Mansbach, H., Kakkis, E., and Mozaffar, T.

Subjects
*INCLUSION body myositis, *SIALIC acids, *DRUG dosage, *THERAPEUTICS
Published
2017
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45. G.P.26 DOK7 limb girdle myasthenic syndrome mimicking congenital muscular dystrophy

Author

Mahjneh, I., Lochmüller, H., Muntoni, F., and Abicht, A.

Subjects
*MUSCULAR dystrophy treatment, *ABNORMALITIES in the anatomical extremities, *GENETIC disorders, *ELECTROPHYSIOLOGY, *GENETIC mutation, *ALBUTEROL, *MUSCLE strength
Abstract

Abstract: Congenital myasthenic syndromes show a wide clinical heterogeneity, however the unusual pattern of muscle weakness and the presence of variable degrees of muscle pathology, together with only subtle electrophysiological abnormalities and lack of circadian variability of symptoms may complicate its recognition. We have previously reported a Palestinian family with suspected congenital muscular dystrophy, who later showed linkage to chromosome 4p16.3. As the DOK7 gene is located in this genetic interval, we considered it a potential candidate for this condition. All patients showed a homozygous DOK7 pathogenic mutation (c.957delC). Therefore, we believe it is important to report this data in order to clarify that this family does not have congenital muscular dystrophy (CMD) and the locus associated with this family should not be classified as a CMD locus anymore. It also highlights the fact that patients with limb-girdle myasthenic syndrome could be easily misdiagnosed as congenital muscular dystrophy if fatigability is lacking or subtle. Following the diagnosis, patients were treated with salbutamol for 8months with significant improvement in their muscle strength and function. [Copyright &y& Elsevier]

Published
2012
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