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Article

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

Internal medicine (Tokyo, Japan) - 15 Mar 2018

Kubota Akatsuki, Ishiura Hiroyuki, Mitsui Jun, Sakuishi Kaori, Iwata Atsushi, Yamamoto Tomotaka, Nishino Ichizo, Tsuji Shoji, Shimizu Jun

Abstract excerpt

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...

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Identifiers

PMID: 29225264
DOI: 10.2169/internalmedicine.9588-17
PMCID: PMC5891531

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LAMA2

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A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient.PMID 29225264Read ↗

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