Jungbluth, H; Sewry, CA; Muntoni, F; (2003) What's new in neuromuscular disorders? The congenital myopathies. EUR J PAEDIATR NEURO , 7 (1) 23 - 30. 10.1016/S1090-3798(02)00136-8.
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The congenital myopathies are a heterogeneous group of early-onset neuromuscular conditions with characteristic findings on muscle biopsy, comprising central core disease, minicore myopathy (multi-minicore disease), nemaline myopathy and myotubular myopathy. Recent years have seen genetic resolution of a proportion of these conditions.The following review summarizes recent genetic findings in the congenital myopathies and outlines implications for our understanding of their pathophysiological basis and their relation to other neuromuscular disorders.
|Title:||What's new in neuromuscular disorders? The congenital myopathies|
|Keywords:||central core disease, multi-minicore disease, nemaline myopathy, myotubular myopathy, genetics, pathophysiology, CENTRAL CORE DISEASE, LINKED MYOTUBULAR MYOPATHY, RECESSIVE NEMALINE MYOPATHY, MUSCLE RYANODINE RECEPTOR, MULTI-MINICORE DISEASE, ALPHA-TROPOMYOSIN GENE, SKEWED X-INACTIVATION, CA2+ RELEASE CHANNEL, MALIGNANT HYPERTHERMIA, AUTOSOMAL-DOMINANT|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health > Department of Neurosciences and Mental Health > ICH - Dubowitz Neuromuscular Centre|
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