Brown−Vialetto−Van Laere syndrome (BVVLS) and Fazio−Londe disease (FLD) are rare neurological disorders presenting with pontobulbar palsy, muscle weakness and respiratory insufficiency. Mutations in SLC52A2 (hRFVT‐2) or SLC52A3 (hRFVT‐3) genes can be responsible for these disorders with an autosomal recessive pattern of inheritance. The aim of this study was to screen for mutations in SLC52A2 and SLC52A3 among Indian families diagnosed with BVVLS and FLD.

中文翻译：

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Brown-Vialetto-Van Laere 和 Fazio-Londe 综合征：SLC52A3 突变与令人费解的表型和遗传

Brown-Vialetto-Van Laere 综合征 (BVVLS) 和 Fazio-Londe 病 (FLD) 是罕见的神经系统疾病，表现为脑桥球麻痹、肌肉无力和呼吸功能不全。在突变SLC52A2（hRFVT-2）或SLC52A3（hRFVT-3）的基因可以负责这些疾病与遗传的常染色体隐性遗传模式。本研究的目的是在诊断为 BVVLS 和 FLD 的印度家庭中筛查 SLC52A2和SLC52A3 的突变。