Mastaglia F L, Phillips B A, Cala L A, Meredith C, Egli S, Akkari P A, Laing N G
Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Australian Neuromuscular Research Institute, Nedlands, Australia.
Neuromuscul Disord. 2002 May;12(4):350-7. doi: 10.1016/s0960-8966(01)00287-5.
A dominantly inherited form of distal myopathy with onset in early childhood was first reported in a 4-generation Australian family in 1995. In the present report we provide further information on the clinical phenotype and natural history of this myopathy, and on the electromyogram and magnetic resonance imaging findings in affected individuals. The pattern of muscle involvement was similar to that in the 'tibial' forms of distal myopathy such as the Finnish (Udd) and Markesbery-Griggs types, with additional involvement of the finger extensors and of some more proximal limb and neck muscles. However, the age of onset was earlier than in these other myopathies and rimmed vacuoles were not found in biopsies from two affected individuals. Evidence of possible anticipation was found in one branch of the family. The gene locus for this myopathy had been mapped to 14q11.2-q13. The linkage region has been refined to a 24 cM region between D14S283 and D14S49 and mutations have been excluded in the PABP2 gene for oculopharyngeal muscular dystrophy which lies within this region.
1995年，在一个澳大利亚的四代家庭中首次报道了一种在儿童早期发病的显性遗传性远端肌病。在本报告中，我们提供了关于这种肌病的临床表型、自然病史以及受影响个体的肌电图和磁共振成像结果的更多信息。肌肉受累模式与芬兰型（乌德型）和马克斯伯里 - 格里格斯型等“胫骨型”远端肌病相似，手指伸肌以及一些更靠近近端的肢体和颈部肌肉也有额外受累。然而，发病年龄比其他这些肌病更早，并且在两名受影响个体的活检中未发现镶边空泡。在该家族的一个分支中发现了可能的遗传早现证据。这种肌病的基因座已定位到14q11.2 - q13。连锁区域已被缩小到D14S283和D14S49之间的24 cM区域，并且位于该区域内的眼咽型肌营养不良的PABP2基因中已排除突变。
