OBJECTIVETo investigate TCAP gene mutation and clinical features of a Chinese patient with limb-girdle muscular dystrophy type 2G(LGMD 2G).

METHODSClinical data of the patient was analyzed. Exons of the TCAP gene were amplified and sequenced.

RESULTSThe patient has presented clinically as LGMD and pathologically as vacuolar myopathy. Genetic analysis has identified compound heterozygous mutations of exons 1 and 2 of the TCAP gene(c.100delC, c.166insG).

CONCLUSIONLGMD is a group of neuromuscular disorders with substantial phenotypic heterogeneity. Genetic diagnosis has become indispensable for accurate diagnosis for patients suspected to have the disease.