Condition: Autosomal recessive limb girdle muscular dystrophy type 2S


rs397509417 in TRAPPC11 gene and Autosomal recessive limb girdle muscular dystrophy type 2S PMID 23830518 2013 Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.