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Fig. 4 | Skeletal Muscle

Fig. 4

From: TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype–phenotype correlation

Fig. 4

Cases carrying TRIM32 mutations reported by age of onset and CK level. A, B All TRIM32 alleles were classified into two types: male and female. C, D All TRIM32 alleles were classified into six types: HET (heterozygote), NHL/NHL (NHL repeats/NHL repeats), NHL/non-NHL (NHL repeats/non-NHL repeats), non-NHL/non-NHL (non-NHL repeats/non-NHL repeats), NHL/DEL (NHL repeats/deletion), and DEL/DEL (deletion/deletion). The dotted line shows the normal boundary line. Details and references for the cases in the figure can be seen in Supplementary Table S1

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Skeletal Muscle

ISSN: 2044-5040

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