Skip to main content

Table 3 Selected genes with reported skeletal muscle expression which could contribute to LGMD

From: Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Gene Protein Interacts with
OBSCN Obscurin TTN
MAP4 microtubule-associated protein 4 BAG3, TARDBP
MAST2 Microtubule-associated serine/threonine kinase 2 DMD
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit –
MYH7 myosin heavy chain 7 TPM2
Back to article page

Human Genomics

ISSN: 1479-7364