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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Sparad:
Bibliografiska uppgifter
I publikationen:Intern Med
Huvudupphovsmän: Kubota, Akatsuki, Ishiura, Hiroyuki, Mitsui, Jun, Sakuishi, Kaori, Iwata, Atsushi, Yamamoto, Tomotaka, Nishino, Ichizo, Tsuji, Shoji, Shimizu, Jun
Materialtyp: Artigo
Språk:Inglês
Publicerad: The Japanese Society of Internal Medicine 2017
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5891531/
https://ncbi.nlm.nih.gov/pubmed/29225264
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.9588-17
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