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7. A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy. Hammans SR; Robinson DO; Moutou C; Kennedy CR; Dennis NR; Hughes PJ; Ellison DW Neuromuscul Disord; 2000 Feb; 10(2):133-7. PubMed ID: 10714588 [TBL] [Abstract][Full Text] [Related]
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12. Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy. van der Sluijs BM; Raz V; Lammens M; van den Heuvel LP; Voermans NC; van Engelen BG J Neuromuscul Dis; 2016 Mar; 3(1):101-109. PubMed ID: 27854203 [TBL] [Abstract][Full Text] [Related]
14. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Hoogerwaard EM; Bakker E; Ippel PF; Oosterwijk JC; Majoor-Krakauer DF; Leschot NJ; Van Essen AJ; Brunner HG; van der Wouw PA; Wilde AA; de Visser M Lancet; 1999 Jun; 353(9170):2116-9. PubMed ID: 10382696 [TBL] [Abstract][Full Text] [Related]
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16. Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers. Felice KJ; Whitaker CH; Wu Q Neuromuscul Disord; 2018 Apr; 28(4):339-345. PubMed ID: 29567349 [TBL] [Abstract][Full Text] [Related]
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