RYR1 -related congenital myopathy with fatigable weakness, responding to pyridostigimine
Illingworth, M.A, Main, M, Pitt, M, Feng, L, Sewry, C.A, Gunny, R, Vorstman, E, Beeson, D, Manzur, A, Muntoni, F, Robb, S.A
Published in Neuromuscular disorders : NMD (01.08.2014)
Published in Neuromuscular disorders : NMD (01.08.2014)
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Journal Article
PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease
Illingworth, M.A., Meyer, E., Chong, W.K., Manzur, A.Y., Carr, L.J., Younis, R., Hardy, C., McDonald, F., Childs, A.M., Stewart, B., Warren, D., Kneen, R., King, M.D., Hayflick, S.J., Kurian, M.A.
Published in Molecular genetics and metabolism (01.06.2014)
Published in Molecular genetics and metabolism (01.06.2014)
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Journal Article