LAMA2


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Related to LAMA2: Merosin

LAMA2

A gene on chromosome 6q22-q23 that encodes laminin alpha 2, an extracellular matrix protein that constitutes one of
the subunits of laminin 2 (merosin) and laminin 4 (s-merosin).
 
Molecular pathology
LAMA2 mutations are associated with congenital merosin-deficient muscular dystrophy.
References in periodicals archive ?
9] Patients with partial merosin deficiency due to mutations in LAMA2 tend to present with milder and more variable phenotypes with later onset.
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
Genetic screening of genes causing hereditary skeletal and cardiomyopathies was performed using targeted next-generation sequencing, and the screened gene panel included SGCD , TCAP , TRIM32 , TTN , FKTN , MYOT , LMNA , CAV3 , EMD , FHL1 , LAMA2 , ITGA7 , SEPN1 , ACTA1 , DES , CRYAB , LDB3 , BAG3 , STA , DMD , MYH7 , and LAMP2 .