Search Results - "Khries, M."

316VP What you see is what it is: the tales of two brothers with rare intronic dystrophin gene duplication by Khries, M., Gowda, V.

“…We describe two brothers whose clinical presentation was consistent with Duchenne muscular dystrophy (DMD). The older brother was referred with a history of…”
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241P Long term follow-up of CHRNE congenital myasthenic syndrome (CMS) – a retrospective multi-centre cohort study by Henehan, L., Khries, M., Ramjattan, H., Dong, Y., Everett, R., Munot, P., Jungbluth, H., Beeson, D., Ramdas, S., Palace, J.

“…Mutations in the CHRNE gene encoding the ε subunit of the adult nicotinic acetylcholine receptor (AChR) lead to an AChR deficiency syndrome and are the most…”
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27P Muscle ultrasound findings in paediatric patients with TTN gene related congenital myopathy by Sarkozy, A., Perry, L., Cicala, G., Manzur, A., Vanegas, M., Khries, M., Sudhakar, S., Clark, C., Muntoni, F., Jungbluth, H., Baranello, G.

“…Biallelic pathogenic TTN gene variants cause a form of congenital myopathy (TTN-CM) with mostly neonatal/paediatric onset. Natural history and markers of…”
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33P Description of natural history baseline characteristics of a paediatric cohort of recessive TTN myopathy patients in the UK – a prospective study by Wolfe, A., Cicala, G., Joefield, T., Sheehan, J., Main, M., Vanegas, M., Khries, M., Clark, C., Sudhakar, S., Perry, L., Bilby, J., Jungbluth, H., Muntoni, F., Baranello, G., Sarkozy, A.

“…Pathogenic TTN gene variants cause a form of congenital myopathy (CM) with variable histopathological features including increased central nuclei and cores on…”
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