Myotilin overexpression enhances myopathology in the LGMD1A mouse model

Muscle and Nerve

Volumn 37, Issue 5, 2008, Pages 663-667

  Garvey, Sean M ^a   Liu, Yutao ^a   Miller, Sara E ^a   Hauser, Michael A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Central nuclei; LGMD1A; Muscular dystrophy; Myofibrillar myopathy; Myotilin

Indexed keywords

GENE PRODUCT; MYOTILIN; RNA;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; GENE; GENE MUTATION; GENE OVEREXPRESSION; LGMD1A GENE; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 1A; MISSENSE MUTATION; MOUSE; MUSCLE ATROPHY; MUSCLE FIBRIL; MYOFIBRILLAR AGGREGATION; NONHUMAN; PRIORITY JOURNAL; TRANSGENE; TREATMENT PLANNING; WILD TYPE;

ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; ISOLEUCINE; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; THREONINE;

EID: 42549141686     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20994     Document Type: Article

References (8)

1. Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, et al. A mutation in myotilin causes spheroid body myopathy. Neurology 2005;65:1936-1940.
2. Garvey SM, Miller SE, Claflin DR, Faulkner JA, Hauser MA. Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. Hum Mol Genet 2006;15:2348-2362.
3. Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 2000;9:2141-2147.
4. Moza M, Mologni L, Trokovic R, Faulkner G, Partanen J, Carpen O. Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice. Mol Cell Biol 2007;27:244-252.
5. Penisson-Besnier I, Talvinen K, Dumez C, Vihola A, Dubas F, Fardeau M, et al. Myotilinopathy in a family with late onset myopathy. Neuromuscul Disord 2006;16:427-431.
6. Salmikangas P, Van Der Ven PF, Lalowski M, Taivainen A, Zhao F, Suila H, et al. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. Hum Mol Genet 2003;12:189-203.
7. Sanoudou D, Corbett MA, Han M, Ghoddusi M, Nguyen MA, Vlahovich N, et al. Skeletal muscle repair in a mouse model of nemaline myopathy. Hum Mol Genet 2006;15: 2603-2612.
8. Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology 2004;62:1363-1371.