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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

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Human Genomics

ISSN: 1479-7364