Abstract：
The Bailey-Bloch congenital myopathy, also known as Native American myopathy (NAM), is an autosomal recessive congenital myopathy first reported in the Lumbee tribe people settled in North Carolina (USA), and characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) triggered by anesthesia. NAM is linked to STAC3 gene coding for a component of excitation-contraction coupling in skeletal muscles. A homozygous missense variant (c.851G > C; p.Trp284Ser) in STAC3 segregated with NAM in the Lumbee families. Non-Native American patients with STAC3 related congenital myopathy, and with other various variants of STAC3 have been reported. Here, we present seven patients from the Comoros Islands (located in the Mozambique Channel) diagnosed with STAC3 related congenital myopathy and having the recurrent variant identified in the Lumbee people. The series is the second largest series of patients having STAC3 related congenital myopathy with a shared ethnicity after le Lumbee series. Local history and geography may explain the overrepresentation of NAM in the Comorian Archipelago with a founder effect. Further researches would be necessary for the understanding of the onset of the NAM in Comorian population as search of the \"classical\" STAC3 variant in East African population, and haplotypes comparison between Comorian and Lumbee patients.
摘要：
Bailey-Bloch先天性肌病,也被称为美洲原住民肌病（NAM），是一种常染色体隐性遗传性先天性肌病，最早在美国北卡罗来纳州的Lumbee部落居民中报道，以先天性虚弱和关节病为特征，腭裂,上睑下垂,身材矮小,脊柱侧后凸,塔利班畸形，以及对麻醉引发的恶性高热（MH）的易感性。NAM与编码骨骼肌中兴奋-收缩耦合成分的STAC3基因相关。STAC3中的纯合错义变体（c.851G>C；p.Trp284Ser）与Lumbee家族中的NAM分离。非美洲原住民患有STAC3相关先天性肌病，并且已经报道了STAC3的其他各种变体。这里,我们介绍了来自科摩罗群岛（位于莫桑比克海峡）的7例患者，这些患者被诊断为STAC3相关的先天性肌病，并且在Lumbee人群中发现了复发性变异。该系列是继leLumbee系列之后，具有共同种族的STAC3相关先天性肌病患者的第二大系列。当地的历史和地理可以解释NAM在科摩罗群岛中的过多代表具有创始人效应。进一步的研究对于理解科摩罗人口中NAM的发作是必要的，因为在东非人口中寻找“经典”STAC3变体，以及科摩罗和Lumbee患者的单倍型比较。
