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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8

Fig. 3

KLHL40 variants identified to date in individuals with NEM8. Schematic presentation of the genomic structure of the KLHL40 gene (upper) and its encoded protein, KLHL40, with the N-terminal BTB-BACK domain and 5 C-terminal kelch repeats (lower). The localization of variants and substitutions identified is depicted with dots. Black: variants reported in the literature; red: novel variants identified in this study; blue: the founder mutation in Chinese patients with NEM8

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172