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

19 Jul 2021

Abstract excerpt

BACKGROUND: LAMA2-related muscular dystrophy including LAMA2-related congenital muscular dystrophy (LAMA2-CMD) and autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) is caused by LAMA2 pathogenic variants. We aimed to describe the natural history and establish genotype-phenotype correlations in a large cohort of Chinese patients with LAMA2-related muscular dystrophy. METHODS: Clinical and genetic...

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PMID: 34281576
DOI: 10.1186/s13023-021-01950-x

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