Molecular Biomarkers & Diagnosis

Masafumi Matsuo

Publications

• Research Article
  Targeted Next-generation Sequencing Reveals a Homozygous Nonsense Mutation in CAPN3 that Causes Limb-girdle Muscular Dystrophy Type 2A First in Vietnam
  Author(s): Emma Tabe Eko Niba, Van Khanh Tran, Le Anh Tuan-Pham, Dung Chi Vu, Ngoc Khanh Nguyen, Thinh Huy Tran, Van Thanh Ta, Tomoko Lee, Yasuhiro Takeshima and Masafumi MatsuoEmma Tabe Eko Niba, Van Khanh Tran, Le Anh Tuan-Pham, Dung Chi Vu, Ngoc Khanh Nguyen, Thinh Huy Tran, Van Thanh Ta, Tomoko Lee, Yasuhiro Takeshima and Masafumi Matsuo
  
  Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous entity characterized by progressive wasting of the shoulder and pelvic-girdle muscles. Diagnosing particular types of LGMD is still challenging, especially in developing countries, with targeted next-generation sequencing (NGS) emerging as the most advanced diagnostic tool. Here, a 15-year-old Vietnamese girl with proximal muscle weakness was examined for genetic cause via targeted NGS using the AmpliSeq Inherited Disease Ready-to-Use Panel on the Ion Torrent Personal Genome Machine of the detected nucleotide changes, a mutation in exon 3 of CAPN3 was considered to be the responsible mutation. In the readpile-ups, only T was observed at the 424th nucleotide, while only C was observed in the normal sample. The c.424 C>Ttransition in CAPN3 shifted glutamine to a stop codon at the 142nd amino acid residue (p.Q142X). .. Read More»
  DOI: 10.4172/2155-9929.1000194

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