Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience

Clinical Genetics

Volumn 89, Issue 4, 2016, Pages 484-488

  Seong, M W ^a   Cho, A ^b   Park, H W ^a   Seo, S H ^a   Lim, B C ^c   Seol, D ^a   Cho, S I ^a   Park, S S ^a   Chae, J H ^c,d  

^a Seoul National University Hospital   (South Korea)

^b Ewha Womans University School of Medicine   (South Korea)

^c Seoul National University Children's Hospital   (South Korea)

^d Seoul National University College of Medicine   (South Korea)

Author keywords

Gene panel; Molecular diagnosis; Muscular dystrophy; Next generation sequencing

Indexed keywords

CALPAIN 3; CREATINE KINASE; GENOMIC DNA; LAMIN A;

ADOLESCENT; ADULT; ANO5 GENE; ARTICLE; CAV3 GENE; CHILD; CLINICAL ARTICLE; DES GENE; DYSF GENE; FEMALE; FKTN GENE; FOLLOW UP; FRKP GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MYOT GENE; NEXT GENERATION SEQUENCING; POMGNT1 GENE; POMT1 GENE; POMT2 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SGCA GENE; SGCB GENE; SGCD GENE; SGCG GENE; TCAP GENE; TRIM32 GENE; YOUNG ADULT;

EID: 84962025415     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12621     Document Type: Article

References (12)

1. Mathews KD, Moore SA. Limb-girdle muscular dystrophy. Curr Neurol Neurosci Rep 2003: 3: 78-85.
2. Zatz M, Vainzof M, Passos-Bueno MR. Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes. Curr Opin Neurol 2000: 13: 511-517.
3. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta myologica 2014: 33: 1-12.
4. 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 1999: 171: 31-37.
5. Tagawa K, Ogawa M, Kawabe K et al. Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients. J Neurol Sci 2003: 211: 23-28.
6. Chae J, Minami N, Jin Y et al. Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy. Neuromuscular Disord 2001: 11: 547-555.
7. Guglieri M, Magri F, D'Angelo MG et al. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat 2008: 29: 258-266.
8. van der Kooi AJ, Frankhuizen WS, Barth PG et al. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. Neurology 2007: 68: 2125-2128.
9. Ghosh PS, Zhou L. The diagnostic utility of a commercial limb-girdle muscular dystrophy gene test panel. J Clin Neuromuscul Dis 2012: 14: 86-87.
10. Park YE, Kim HS, Lee CH, Nam TS, Choi YC, Kim DS. Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy. Neuromuscular Disord 2012: 22: 505-510.
11. Takahashi T, Aoki M, Suzuki N et al. Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B. Journal of neurology, neurosurgery, and psychiatry 2013: 84: 433-440.
12. Krahn M, Beroud C, Labelle V et al. Analysis of the DYSF mutational spectrum in a large cohort of patients. Human mutation 2009: 30: E345-375.