OBJECTIVE: To study dysferlin gene mutations and genotype-phenotype correlations in Japanese patients with Miyoshi myopathy (MM). BACKGROUND: MM is an autosomal recessive distal muscular dystrophy that arises from mutations in the dysferlin gene. This gene is also mutated in families with limb girdle muscular dystrophy 2B. METHODS: The authors examined 25 Japanese patients with MM. Genomic DNA was extracted from the peripheral lymphocytes of the patients. The PCR products of each of 55 exons were screened by single strand conformation polymorphism or direct sequencing from the PCR fragments. RESULTS: The authors identified 16 different mutations in 20 patients with MM; 10 were novel. Mutations in Japanese patients are distributed along the entire length of the gene. CONCLUSIONS: Four mutations (C1939G, G3370T, 3746delG, and 4870delT) are relatively more prevalent in this population, accounting for 60% of the mutations in this study. This study revealed that the G3370T mutation was associated with milder forms of MM and the G3510A mutation was associated with a more severe form.
OBJECTIVE: To study dysferlin gene mutations and genotype-phenotype correlations in Japanese patients with Miyoshi myopathy (MM). BACKGROUND: MM is an autosomal recessive distal muscular dystrophy that arises from mutations in the dysferlin gene. This gene is also mutated in families with limb girdle muscular dystrophy 2B. METHODS: The authors examined 25 Japanese patients with MM. Genomic DNA was extracted from the peripheral lymphocytes of the patients. The PCR products of each of 55 exons were screened by single strand conformation polymorphism or direct sequencing from the PCR fragments. RESULTS: The authors identified 16 different mutations in 20 patients with MM; 10 were novel. Mutations in Japanese patients are distributed along the entire length of the gene. CONCLUSIONS: Four mutations (C1939G, G3370T, 3746delG, and 4870delT) are relatively more prevalent in this population, accounting for 60% of the mutations in this study. This study revealed that the G3370T mutation was associated with milder forms of MM and the G3510A mutation was associated with a more severe form.
Authors: William E Grose; K Reed Clark; Danielle Griffin; Vinod Malik; Kimberly M Shontz; Chrystal L Montgomery; Sarah Lewis; Robert H Brown; Paul M L Janssen; Jerry R Mendell; Louise R Rodino-Klapac Journal: PLoS One Date: 2012-06-15 Impact factor: 3.240
Authors: Hyung Jun Park; Ji-Man Hong; Gyoung Im Suh; Ha Young Shin; Seung Min Kim; Il Nam Sunwoo; Bum Chun Suh; Young-Chul Choi Journal: J Korean Med Sci Date: 2012-03-21 Impact factor: 2.153
Authors: Jens A Petersen; Thierry Kuntzer; Dirk Fischer; Maja von der Hagen; Angela Huebner; Veronika Kana; Johannes A Lobrinus; Wolfram Kress; Elisabeth J Rushing; Michael Sinnreich; Hans H Jung Journal: BMC Neurol Date: 2015-10-06 Impact factor: 2.474