Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Genes (Basel). 2023 Aug 5;14(8):1587. doi: 10.3390/genes14081587.
Limb-girdle muscular dystrophies are a group of genetic disorders classically manifesting with progressive proximal muscle weakness. Affected individuals present with atrophy and weakness of the muscles of the shoulders and hips, and in some cases, intellectual disability or developmental delay has also been reported. Limb-girdle muscular dystrophy-3 is a recessive disorder caused by biallelic variants in the gene. Similarly, symptoms include proximal muscle weakness, elevated CPK, calf muscle pseudohypertrophy, and mobility issues. Cardiac symptoms and respiratory insufficiency are also common symptoms. This case report details a 3-year-old male with muscular weakness, elevated CK, and a neurodevelopmental disorder in whom a homozygous missense variant in c.229C>T (p.Arg77Cys) associated with limb-girdle muscular dystrophy-3 was found. This report shows the association between c.229C>T and neurodevelopmental disorders as observed in other muscular dystrophies.
肢带型肌营养不良症是一组遗传性疾病，其特征为进行性近端肌肉无力。受影响的个体表现为肩部和臀部肌肉的萎缩和无力，在某些情况下，也有报道智力残疾或发育迟缓。肢带型肌营养不良症-3 是一种由 基因中的双等位基因突变引起的隐性疾病。同样，症状包括近端肌肉无力、CPK 升高、小腿假性肥大和运动障碍。心脏症状和呼吸功能不全也是常见症状。本病例报告详细介绍了一名 3 岁男性，其肌肉无力、CK 升高，伴有神经发育障碍，其携带与肢带型肌营养不良症-3 相关的 c.229C>T（p.Arg77Cys）纯合错义突变。该报告显示了 c.229C>T 与神经发育障碍之间的关联，这在其他肌营养不良症中也有观察到。
