Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy

Journal of Human Genetics

Volumn 58, Issue 8, 2013, Pages 564-565

  Matsuura, Tohru ^a   Kurosaki, Tatsuaki ^b   Omote, Yoshio ^a   Minami, Narihiro ^c   Hayashi, Yukiko K ^c,d   Nishino, Ichizo ^c,d   Abe, Koji ^a  

^a OKAYAMA UNIVERSITY   (Japan)

^b UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^d NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; CASE REPORT; DIAGNOSTIC PROCEDURE; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; LETTER; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE ATROPHY; MUSCLE WEAKNESS; PROMOTER REGION;

ADULT; BASE SEQUENCE; CALPAIN; DNA MUTATIONAL ANALYSIS; EXOME; EXONS; FEMALE; GENETIC HETEROGENEITY; HOMOZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; YOUNG ADULT;

EID: 84882846603     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.33     Document Type: Letter

References (8)

1. Pegoraro, E. & Hoffman, E. P. Limb-girdle muscular dystrophy overview. in Gene Reviewst (eds Pagon, R. A., Bird, T. D., Dolan, C. R., Stephens, K. & Adam, M. P. http://www.ncbi.nlm.nih.gov/books/ NBK1408/[updated 30 August 2012] University of Washington, Seattle, WA, USA, 1993)
2. Ura, S., Hayashi, Y. K., Goto, K., Astejada, M. N., Murakami, T., Nagato, M. et al. Limb-girdle muscular dystrophy due to emerin gene mutations. Arch. Neurol 64, 1038-1041 (2007)
3. Ku, C. S., Cooper, D. N., Polychronakos, C., Naidoo, N., Wu, M. & Soong, R. Exome sequencing: dual role as a discovery and diagnostic tool. Ann. Neurol. 71, 5-14 (2012)
4. Kawai, H., Akaike, M., Kunishige, M., Inui, T., Adachi, K., Kimura, C. et al. Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families. Muscle Nerve 21, 1493-1501 (1998)
5. Minami, N., Nishino, I., Kobayashi, O., Ikezoe, K., Goto, Y. & Nonaka, I. Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan. J. Neurol. Sci. 171, 31-37 (1999)
6. Chae, J., Minami, N., Jin, Y., Nakagawa, M., Murayama, K., Igarashi, F. et al. Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy. Neuromuscul. Disord. 11, 547-555 (2001)
7. Pogue, R., Anderson, L. V., Pyle, A., Sewry, C., Pollitt, C., Johnson, M. A. et al. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul. Disord. 11, 80-87 (2001)
8. Boyden, S. E., Salih, M. A., Duncan, A. R., White, A. J., Estrella, E. A., Burgess, S. L. et al. Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. Neurogenetics 11, 449-455 (2010).