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Myofiber Size Correlates with MTM1 Mutation Type and Outcome in X-linked Myotubular Myopathy

We aimed to correlate pathologic findings with MTM1 mutation type in a series of molecularly defined XLMTM cases. Clinical data from 15 XLMTM patients and their corresponding 16 muscle biopsies were studied. All patients were infants (range: 6 to 217 days old) when initially biopsied. The proportion...

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Bibliografiske detaljer
Main Authors: Pierson, Christopher R., Agrawal, Pankaj B., Blasko, Jessica, Beggs, Alan H.
Format: Artigo
Sprog:Inglês
Udgivet: 2007
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2043149/
https://ncbi.nlm.nih.gov/pubmed/17537630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2007.03.010
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