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Fig. 6 | Orphanet Journal of Rare Diseases

Fig. 6

From: Neutral lipid storage disease with myopathy in China: a large multicentric cohort study

Fig. 6

Location of mutations in PNPLA2 gene identified in 45 patients with NLSDM. To accommodate the distribution of mutations, the size of the exons was not represented at scale. To illustrate the reading frame, the exons are schematically represented by boxes with blunt, protrusive or intrusive ends. Nucleotide numbering for all mutations was designated according to the coding DNA reference sequence (CDS) in GenBank Accession number NM_020376 (PNPLA2). Numerals within parentheses indicate the number of patients harboring the mutation

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