A Homozygous LAMA2 Mutation of c.818G＞A Caused Partial Merosin Deficiency in a Japanese Patient

A complete loss of merosin, which is encoded by LAMA2, causes congenital muscular dystrophy with leukoencephalopathy. Partial merosin deficiency can be caused not only by primarily LAMA2 mutations, but also secondarily by dystroglycanopathy. Although it can be molecularly diagnosed based on a geneti...

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Detalles Bibliográficos
Autores principales: Kubota, Akatsuki, Ishiura, Hiroyuki, Mitsui, Jun, Sakuishi, Kaori, Iwata, Atsushi, Yamamoto, Tomotaka, Nishino, Ichizo, Tsuji, Shoji, Shimizu, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891531/
https://www.ncbi.nlm.nih.gov/pubmed/29225264
http://dx.doi.org/10.2169/internalmedicine.9588-17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891531/
https://www.ncbi.nlm.nih.gov/pubmed/29225264
http://dx.doi.org/10.2169/internalmedicine.9588-17

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