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Article

A novel deep intronic variant in LAMA2 identified by RNA sequencing.

Neuromuscular disorders : NMD - 1 Jun 2024

Djordjevic Djurdja, Alawneh Issa, Amburgey Kimberly, Yuki Kyoko E, Kyriakopoulou Lianna G, Navickiene Vilma, Stavropoulos Jim, Yoon Grace, Dowling James J, Gonorazky Hernan

Abstract excerpt

LAMA2-related muscular dystrophy is caused by pathogenic variants of the alpha2 subunit of Laminin. This common form of muscular dystrophy is characterized by elevated CK >1000IU/L, dystrophic changes on muscle biopsy, complete or partial absence of merosin staining, and both central and peripheral nervous system involvement. Advancements in genomic testing using NGS and wider application of RNA sequencing has...

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PMID: 38691940
DOI: 10.1016/j.nmd.2024.04.001

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