Nonaka I, Kobayashi O, Osari S
Department of Ultrastructural Research, National Center of Neurology and Psychiatry, Tokyo, Japan.
Semin Pediatr Neurol. 1996 Jun;3(2):110-21. doi: 10.1016/s1071-9091(96)80040-4.
The spectacular progress concerning dystrophin and its pathology, the dystrophinopathies, has led to a somewhat arbitrarily separated heterogeneous group of nondystrophinopathic muscular dystrophies that currently comprise the Emery-Dreifuss type, the nosologically heterogeneous autosomal-recessive limb-girdle muscular dystrophy, the severe childhood autosomal-recessive muscular dystrophy, the merosin-positive and -negative congenital muscular dystrophies, the autosomal-recessive distal muscular dystrophy of Miyoshi, the facio-scapulo-humeral muscular dystrophy, and myotonic dystrophy, both the adult and neonatal variants. Deficiencies of adhalin in a particular form of limb-girdle muscular dystrophy, and of merosin in a particular form of congenital muscular dystrophy as well as the newly discovered principle of abnormal tri-nucleotide repeats in myotonic dystrophy are evidence of progress that has also amplified the notion of the dystrophinopathies that the protein-deficient muscular dystrophies can now be considered examples of contributions of the dystrophin-glycoprotein complex across the muscle fiber plasma membrane.
关于肌营养不良蛋白及其病理学（肌营养不良蛋白病）的显著进展，导致了一组目前被归为非肌营养不良蛋白病性肌营养不良的、分类有些随意的异质性疾病，它们包括埃默里 - 德赖富斯型、分类学上异质性的常染色体隐性肢带型肌营养不良、严重儿童常染色体隐性肌营养不良、含和不含merosin的先天性肌营养不良、宫下常染色体隐性远端肌营养不良、面肩肱型肌营养不良以及成人型和新生儿型强直性肌营养不良。在特定类型的肢带型肌营养不良中阿达尔素的缺乏、在特定类型的先天性肌营养不良中merosin的缺乏以及在强直性肌营养不良中新发现的异常三核苷酸重复原则，都是进展的证据，这也强化了肌营养不良蛋白病的概念，即蛋白缺乏性肌营养不良现在可被视为肌营养不良蛋白 - 糖蛋白复合物跨肌纤维质膜作用的实例。
