Large duplication in MTM1 associated with myotubular myopathy. Neuromuscul Disord 2013 Mar;23(3):214-8
Date
01/01/2013Pubmed ID
23273872Pubmed Central ID
PMC3594803DOI
10.1016/j.nmd.2012.11.010Scopus ID
2-s2.0-85027946146 (requires institutional sign-in at Scopus site) 8 CitationsAbstract
Myotubular myopathy is a subtype of centronuclear myopathy with X-linked inheritance and distinctive clinical and pathologic features. Most boys with myotubular myopathy have MTM1 mutations. In remaining individuals, it is not clear if disease is due to an undetected alteration in MTM1 or mutation of another gene. We describe a boy with myotubular myopathy but without mutation in MTM1 by conventional sequencing. Array-CGH analysis of MTM1 uncovered a large MTM1 duplication. This finding suggests that at least some unresolved cases of myotubular myopathy are due to duplications in MTM1, and that array-CGH should be considered when MTM1 sequencing is unrevealing.
Author List
Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJAuthor
Michael W. Lawlor MD, PhD Adjunct Professor in the Pathology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Fatal OutcomeGene Duplication
Genetic Testing
Humans
Infant
Infant, Newborn
Male
Myopathies, Structural, Congenital
Protein Tyrosine Phosphatases, Non-Receptor
