Case report: adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous lama2 missense variant

HIGHLIGHTS

• who: Matthew Katz from the University of Milan, Italy have published the research work: Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant, in the Journal: (JOURNAL)
• what: The authors report a novel homozygous LAMA2 variant in two siblings born to consanguineous parents.
• how: Were analyzed with BlueFuse Multiversion 4.4 using genome reference sequence GRCh37/hg19. imaged on a Leica DMi8 microscope and figures prepared using Adobe Illustrator.

SUMMARY

Laminin subunit alpha 2 (LAMA2) encodes the α2 subunit of . . .

 



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