Rimmed vacuoles in late-onset LAMA2-related limb girdle muscular dystrophy

Cho, Jinhyuk; Kim, Se Hoon; Kim, Ki Hoon; Kim, Seung-Woo; Shin, Ha Young

doi:10.1007/s13760-021-01631-3

Cited by 2 publications

(1 citation statement)

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“…Neither detailed clinical features nor genotypes of LGMD R23 were described in these cohorts. There are a few small case reports to date ( 7 , 15 ), but the detailed clinical phenotypes and genetic information associated with LGMD R23 are still largely unknown. The prevalence of Chinese LGMD R23 is currently unknown.…”

Section: Introductionmentioning

confidence: 99%

Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients

et al. 2023

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BackgroundLAMA2-related limb girdle muscular dystrophy (LGMD R23) is rare. The detailed clinical phenotypes and genetic information associated with LGMD R23 are unknown.MethodsWe conducted a retrospective cross-sectional and longitudinal study on 19 LGMD R23 patients.ResultsNormal early motor development was observed in 84.2% patients. Mild orthopedic complications were observed in 42.1% patients. 36.8% patients had seizures, which is unusually frequent in LGMD. Epilepsy was eventually diagnosed in 26.3% patients. 46.7% patients presented with motor neuropathy. Genetic analysis identified 29 pathogenic variants, with missense and frameshift variants being the most common. The mutant sites were mainly distributed in the N-terminal and G-like domains of laminin. The missense variants are distributed near the N-terminus (exons 3–11), whereas frameshift variants are distributed in exons 12–65. Five patients were diagnosed with epilepsy and all of them harbor at least one missense variants in exon 4. 71.4% variants of patients with motor neuropathy located in the LN domain.ConclusionsMissense variants in exon 4 maybe correlated with epilepsy and variants in the LN domain maybe correlated with motor neuropathy in Chinese patients. Our study expands the clinical and genetic spectrum caused by LAMA2 variations and provides novel genotype-phenotype correlations of LGMD R23.

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Section: Introductionmentioning

confidence: 99%