Ontology highlight
ABSTRACT:
SUBMITTER: Kubota A
PROVIDER: S-EPMC5891531 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Kubota Akatsuki A Ishiura Hiroyuki H Mitsui Jun J Sakuishi Kaori K Iwata Atsushi A Yamamoto Tomotaka T Nishino Ichizo I Tsuji Shoji S Shimizu Jun J
Internal medicine (Tokyo, Japan) 20171208 6
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 genetic analysis, this method is labor-intensive because of its huge genome size. A 26-year-old male patient presented with mild muscular weakness, joint contractures, and epilepsy. Double immunofluorescenc ...[more]