title: Gene therapy in monogenic congenital myopathies.
abstract: Current treatment options for patients with monogenetic congenital myopathies (MCM) ameliorate the symptoms of the disorder without resolving the underlying cause. However, gene therapies are being developed where the mutated or deficient gene target is replaced. Preclinical findings in animal models appear promising, as illustrated by gene replacement for X-linked myotubular myopathy (XLMTM) in canine and murine models. Prospective applications and approaches to gene replacement therapy, using these disorders as examples, are discussed in this review.
authors.affiliation: Department of Physiology and Pharmacology, School of Medicine, Wake Forest University Health Sciences, Winston-Salem, NC, USA; Department of Rehabilitation Medicine, University of Washington, Seattle, WA, USA; Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA.
authors.forename: Xuan
authors.initials: X
authors.lastname: Guan
authors.affiliation: Department of Physiology and Pharmacology, School of Medicine, Wake Forest University Health Sciences, Winston-Salem, NC, USA; Department of Rehabilitation Medicine, University of Washington, Seattle, WA, USA; Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA.
authors.forename: Melissa A
authors.initials: MA
authors.lastname: Goddard
authors.affiliation: Department of Rehabilitation Medicine, University of Washington, Seattle, WA, USA; Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA.
authors.forename: David L
authors.initials: DL
authors.lastname: Mack
authors.affiliation: Department of Rehabilitation Medicine, University of Washington, Seattle, WA, USA; Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA. Electronic address: mkc8@uw.edu.
authors.forename: Martin K
authors.initials: MK
authors.lastname: Childers
mesh_terms: D000818:Animals; D018014:Gene Transfer Techniques; D015316:Genetic Therapy; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics; D020914:Myopathies, Structural, Congenital / Q000235:genetics / Q000628:therapy*
chemical_list: D009124:Muscle Proteins
keywords: Animal models; Gene therapy; Muscle disease; Muscular dystrophy; Myopathy