Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene

Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF gene have been found from all over the world, there is only one report of genetically confirmed case of...

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Detalles Bibliográficos
Autores principales: Cho, Hyun-Jung, Sung, Duck Hyun, Kim, Eun-Jin, Yoon, Chul Ho, Ki, Chang-Seok, Kim, Jong-Won
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2006
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2729898/
https://www.ncbi.nlm.nih.gov/pubmed/16891820
http://dx.doi.org/10.3346/jkms.2006.21.4.724

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2729898/
https://www.ncbi.nlm.nih.gov/pubmed/16891820
http://dx.doi.org/10.3346/jkms.2006.21.4.724

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