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Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy.
Friedman, Bethany; Simpson, Kara; Tesi-Rocha, Carolina; Zhou, Delu; Palmer, Cheryl A; Suchy, Sharon F.
Affiliation
  • Friedman B; GeneDx, Gaithersburg, MD, USA.
  • Simpson K; Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA.
  • Tesi-Rocha C; Neurology, Children's National Medical Center, Washington, DC, USA.
  • Zhou D; Department of Pathology, University of Utah, Salt Lake City, UT, USA.
  • Palmer CA; Department of Pathology, University of Utah, Salt Lake City, UT, USA.
  • Suchy SF; GeneDx, Gaithersburg, MD, USA. Electronic address: ssuchy@genedx.com.
Neuromuscul Disord ; 24(4): 331-4, 2014 Apr.
Article in En | MEDLINE | ID: mdl-24447884
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Actins / Sequence Deletion / Myopathies, Nemaline Limits: Child, preschool / Female / Humans Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2014 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Actins / Sequence Deletion / Myopathies, Nemaline Limits: Child, preschool / Female / Humans Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2014 Document type: Article Affiliation country: Country of publication: