Spectrum of Clinical Features in XL-MTM Carriers: An International Questionnaire Study.
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DOI: 10.1212/wnl.0000000000012236
Abstract: OBJECTIVE To characterize the spectrum of clinical features in a cohort of X-linked myotubular myopathy (XL-MTM) carriers, including prevalence, genetic features, clinical symptoms and signs, as well as associated disease burden. METHODS We performed a… read more here.
Keywords: questionnaire study; clinical features; manifesting carriers; spectrum clinical ... See more keywords