We report 143 Australian and North American cases of primary nemaline myopathy. As classified by the European Neuromuscular Centre guidelines, 23 patients had severe congenital, 29 intermediate congenital, 66 typical congenital, 19 childhood-onset, and 6 adult-onset nemaline myopathy. Inheritance was autosomal recessive in 29 patients, autosomal dominant in 41, sporadic in 72, and indeterminate...

Congenital myopathies resulting from mutations in the gene encoding α-skeletal-muscle actin, ACTA1, show various phenotypes that have been divided into three classes based on the morphology observed in patient muscle biopsies (Sparrow et al., 2003). These myopathies have a range of severity, from mild (with long-term survival and only minor muscle weakness), to severe (with lethality shortly af...

INTRODUCTION Nemaline myopathy is a rare genetic muscle disorder defined by the presence of nemaline rods in the muscle fibre sarcoplasm. Congenital nemaline myopathy is the most serious form of the disease's spectrum. CASE PRESENTATION The affected newborn has no spontaneous movement, fractures at birth and respiratory insufficiency. The present case was a Thai male, floppy at birth with fra...

Ullrich congenital muscular dystrophy and Bethlem myopathy are caused by mutations in collagen VI (ColVI) genes, which encode an extracellular matrix protein; yet, mitochondria play a major role in disease pathogenesis through a short circuit caused by inappropriate opening of the permeability transition pore, a high-conductance channel, which causes a shortage in ATP production. We find that m...

Nemaline myopathy is a type of the heterogeneous group of congenital myopathies. Generalized hypotonia, weakness, and delayed motor development are the main clinical features of the typical congenital form. Histopathology shows characteristic nemaline rods in the muscle biopsy. Mutations in at least 7 genes, including nebulin gene (NEB), proved to be responsible for this muscle disease. We pres...

The skeletal muscle sarcoplasmic reticulum calcium release channel, commonly known as ryanodine receptor type 1 (RyR1), is encoded by the RYR1 gene and specifically interacts with the voltage-dependent Ca2+-channel Cav1.1, localized at T-tubular membrane. The depolarization of the plasma membrane results in conformational changes in Cav1.1, which are transmitted directly to the RyR1 channel, ca...

Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; and adult onset. We describe herein the muscle biopsy findings of ten patients with the childhood onset form of the disease including three cases with ultrastructural study. T...

CASE REPORT We report a case of congenital tubular aggregate myopathy associated with retinal degeneration. COMMENTS Bilateral, asymmetric retinal degeneration developed in a 37-year-old woman with a history of congenital tubular aggregate myopathy. The major pathological feature was the presence of tubular aggregates, believed to arise from the sarcoplasmic reticulum, which are present in sk...

The authors of this paper wish to present a case of fatal cor pulmonale with right ventricular hypertrophy complicated by a congenital myopathy. It is our intention to demonstrate the importance of vigilant clinical assessment of children with a congenital myopathy, regardless of the exact etiology of their disease, or family history of disease severity. This case highlights the risk for fatal ...

Lindqvist, J. 2014. Cellular and Molecular Mechanisms Underlying Congenital Myopathy-related Weakness. Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 977. 45 pp. Uppsala: Acta Universitatis Upsaliensis. ISBN 978-91-554-8894-9. Congenital myopathies are a rare and heterogeneous group of diseases. They are primarily characterised by skeletal muscle weakness ...