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A Colour Atlas of Muscle Disorders in Childhood

Published 19 December 1988
Victor Dubowitz
Citations23

TL;DR

The central core disease, minicore disease nemaline myotubular - type 1 myotUBular - X-linked mitochondrial fibre type disproportion ocular, which causes muscular dystrophy, and laxity of ligaments central causes other disorders, which cause other disorders.

Abstract

Normal muscle function and structure. Muscular dystrophy: Duchenne, Becker/limb girdle congenital facioscapulohumeral. Congenital myopathies: central core disease, minicore disease nemaline myotubular - type 1 myotubular - X-linked mitochondrial fibre type disproportion ocular. Spinal muscular atrophy: Werdnig-Hoffman, intermediate, mild peripheral neuropathies peroneal muscular atrophy motor neurone disease myotonia congenita. Myotonic dystrophy: congenital, later form, adult. Metabolic myopathies: glycogenoses lipid storage. Myasthenia gravis: congenital, later dermatomyotosis. Floppy infant: general Praeder-Willi syndrome laxity of ligaments central causes other disorders. Contractures of muscle: arthrogryposis rigid spine syndrome myotosis ossificans. Biopsy technique: open needle.

Keywords

MedicineBiochemistry, Genetics and Molecular Biology