Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family

Figures

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  FIGURE 1. Pedigree and genetic data of the individuals in this study. (A) Pedigree of a Han Chinese three-generation family with LGMD. Arrow symbolizes proband; N, normal allele; V1, TTN c.19481T>G variant; V2, TRAPPC11 c.3092C>G variant. (B) The sequencing diagram of heterozygous TTN c.19481T>G (p.Leu6494Arg) variant. (C) The sequencing diagram of heterozygous TRAPPC11 c.3092C>G (p.Pro1031Arg) variant. (D) Sequence of normal control in the TTN gene. (E) Sequence of normal control in the TRAPPC11 gene. LGMD, limb-girdle muscular dystrophies; TTN, the titin gene; TRAPPC11, the trafficking protein particle complex 11 gene.

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  FIGURE 2. Electromyography and muscle biopsy morphologic findings of LGMD patient (II-3). (A) Electromyography showed myopathic features in the upper proximal muscles. (B) Regenerating fiber and a slight increase of connective tissue (H&E ×100). (C) Normal sarcolemmal expression of α-sarcoglycan (×100). (D) Normal sarcolemmal expression of β-sarcoglycan (×100). H&E, hematoxylin and eosin.

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  FIGURE 3. Biological interaction network of TTN and TRAPPC11 (GeneMANIA v3.6.0, http://genemania.org). TTN, the titin gene; TRAPPC11, the trafficking protein particle complex 11 gene.