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Article

Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy

Although recessive mutations in LAMA2 are already known to cause laminin α2-related muscular dystrophy, a rare neuromuscular disorder, large deletions or duplications within this gene are not well-characterized. ...

Lin Ge, Aijie Liu, Kai Gao, Renqian Du, Juan Ding, Bing Mao, Ying Hua… in Scientific Reports (2018)