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Highly Specialised Congenital Myopathy Service

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Highly Specialised Congenital Myopathy Service1

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P18 N-of-1 ASO therapeutic development for ultra-rare deep intronic mutations in X-linked myotubular myopathy

jmedgenet · abstract · 2026-01-28 · 1 matching annotations

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Highly Specialised Congenital Myopathy Service Great Ormond Street Hospital X-linked myotubular myopathy XLMTM

…urrently available.At Great Ormond Street Hospital, through the Highly Specialised Congenital Myopathy Service, we have identified two ultra-rare deep intronic MTM1 mutations…

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Highly Specialised Congenital Myopathy Service

Articles mentioning Highly Specialised Congenital Myopathy Service

P18 N-of-1 ASO therapeutic development for ultra-rare deep intronic mutations in X-linked myotubular myopathy