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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

Fig. 4

Genetic characteristics and genotype–phenotype correlations in LAMA2-related muscular dystrophy. a Six types of disease-causing variants in 218 alleles. b Distribution of 184 allele mutations (except CNVs). c Distribution of missense disease-causing variants in LGMDR23 and LAMA2-CMD. d Nonsense in LAMA2-CMD patients, missense disease-causing variants in LGMDR23 patients, splicing disease-causing variants in ambulatory LAMA2-CMD patients and CNVs in nonsurvivors were more frequent. CNVs copy number variations; Coil laminin helical coiled-coil domain, IV type A laminin IV type A1 or A2, LN laminin N-terminal, LAMA2-CMD LAMA2-related congenital muscular dystrophy, LGMDR23 autosomal recessive limb-girdle muscular dystrophy-23, Splicing splicing disease-causing variant

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