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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

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

Fig. 2

Variant identification by Sanger sequencing. Compound heterozygous variants c.543del and c.1516A>C in KLHL40 were detected in patient 1 (a); compound heterozygous variants c.602G>A and c.1516A>C in KLHL40 were detected in patient 2 (b); and homozygous variant c.1516A>C in KLHL40 was detected in patient 3 (c) and both siblings (patients 4 and 5) (d). The red arrow indicates the variant site

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172