这一成果发表在最新的一期《Annals of Neurology》上，它是国际神经学的最好刊物之一。完成此项工作的是西澳大利亚医学研究所（WAIMR）的分子遗传学实验室的Nigel Laing教授和Kristen Nowak博士领导的小组，他们和数位欧洲的研究者进行了合作。
??Laing表示他的小组发现欧洲的一些天生缺乏一种关键骨骼肌肌动蛋白的儿童并未在出生时发生麻痹，而且可以进行一些肌肉运动。Laing教授说：“这些重要的发现能帮助更好的了解其中的机理，这些缺少骨骼肌肌动蛋白的儿童在肌肉中存在另一种形式的蛋白，叫做心脏肌动蛋白。”
??Laing表示这些发现非常激动人心，他说：“我们发现在骨骼肌中存在越多的心脏肌动蛋白，能进行的运动就越多。在人类出生之前，在骨骼肌中同时存在两种肌动蛋白，但是在出生时心脏肌动蛋白被关闭，而其中的机理尚不清楚。科学家长久以来相信，一旦能找到发现重新打开心脏肌动蛋白的方法，就能为治疗肌无力症找到新手段。”
??他接着说：“值得注意的是这些儿童能自动进行这一过程，用以中和身体的症状。如果我们能找到其中的机理就能帮助这些患病的儿童。”患有这些疾病的儿童在骨骼肌肌动蛋白基因存在隐性突变，这会关闭基因功能。隐性突变意味着患者的健康双亲都是这一基因的携带者。Laing的实验室是第一个发现这一相关基因的机构。
英文原文：
Key finding in rare muscle disease
The finding is in the current issue of Annals of Neurology, a leading international neurology journal, in work led by Professor Nigel Laing and Dr Kristen Nowak of the Laboratory for Molecular Genetics at the Western Australian Institute for Medical Research (WAIMR) and done in collaboration with a number of European researchers.
Professor Laing said his team had discovered a number of children across Europe who, despite a complete absence of the crucial skeletal muscle protein actin, were not totally paralysed at birth, and managed to have some muscle movements.
"This intriguing finding led us to look deeper and what we saw is that while these children do not have any skeletal actin in their skeletal muscle, they have another form of the protein, known as heart actin, in their skeletal muscles," said Professor Laing.
"It appears the more heart actin they have in their skeletal muscles, the more movement they have."
Professor Laing said the finding was providing much excitement.
"Before we are born, we all have both skeletal muscle and heart actin in our skeletal muscles, but around the time of birth, we switch off the heart actin – and right now, it's a mystery why this happens," he said.
"We have long believed that if we could find out how to switch the heart actin back on in the skeletal muscle we could use this to create new treatments for these devastating muscle diseases.
"What's remarkable is that these children's bodies have performed this 'switching on' process naturally, presumably to help counteract their condition, and if we can tap into the science of how they've managed to do that, we could perhaps use that information to help other affected children."
