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Introduction
When, 5 years ago, I edited an earlier issue of Seminars in Pediatric Neurology, we updated our knowledge on hereditary childhood neuromuscular diseases, subsequent to a previous one, which, likewise,...
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Hans H. Goebel
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213-215
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Clinical Approach to the Diagnosis of Congenital Myopathies
In this issue of Seminars in Pediatric Neurology, each chapter will focus on the features and management of individual congenital myopathies. This introductory chapter will provide an overview of the ...
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Kathryn N. North
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216-220
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Muscle Imaging in Congenital Myopathies
Congenital myopathies are a genetically heterogeneous group of early-onset myopathies classified according to the predominant histopathological findings in skeletal muscle. During the past years, cons...
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Susana Quijano-Roy,
Robert Y. Carlier,
Dirk Fischer
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221-229
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Nemaline Myopathies
Nemaline myopathy constitutes a continuous spectrum of primary skeletal muscle disorders named after the Greek word for thread, nema. The diagnosis is based on muscle weakness, combined with visualiza...
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Carina Wallgren-Pettersson,
Caroline A. Sewry,
Kristen J. Nowak,
Nigel G. Laing
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230-238
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Core Myopathies
The core myopathies, Central Core Disease and Multiminicore Disease, are heterogeneous congenital myopathies with the common defining histopathological feature of focally reduced oxidative enzyme acti...
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Heinz Jungbluth,
Caroline A. Sewry,
Francesco Muntoni
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239-249
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Centronuclear Myopathies
Centronuclear myopathies (CNM) are inherited disorders characterized by a high incidence of nuclei usually placed in rows in the central part of the muscle fibers. Three main forms of CNM have been id...
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Norma B. Romero,
Marc Bitoun
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250-256
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Reducing Body Myopathy and Other FHL1-Related Muscular Disorders
During the past 2 years, considerable progress in the field of four and a half LIM domain protein 1 (FHL1)-related myopathies has led to the identification of a growing number of FHL1 mutations. This ...
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Joachim Schessl,
Sarah Feldkirchner,
Christiana Kubny,
Benedikt Schoser
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257-263
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Congenital Fiber-Type Disproportion
Congenital fiber-type disproportion is a form of congenital myopathy that may be best viewed as a syndrome rather than as a formal diagnosis. The central histologic abnormality is that type 1 fibers a...
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Nigel F. Clarke
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264-271
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Protein Aggregation in Congenital Myopathies
Protein aggregation in congenital myopathies may be encountered among different myofibrillar myopathies such as granulofilamentous myopathy, cytoplasmic body myopathy, or spheroid body myopathy, which...
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Hans H. Goebel,
Astrid Blaschek
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272-276
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Congenital Muscular Dystrophies: A Brief Review
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous neuromuscular disorders with onset at birth or in infancy in which the muscle biopsy is compatible with a dystrophic...
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Enrico Bertini,
Adele D'Amico,
Francesca Gualandi,
Stefania Petrini
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277-288
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Author-Subject Index
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e1-e7
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