Although it has been recognized for many years that symptoms and signs indicating disordered function of the voluntary musculature may be prominent in patients with myxoedema, the muscular manifestations of hypothyroidism have received comparatively little attention in the British literature. Recent reviews have, however, been given by Thomasen (1948), Piaggio Blancho and Malosetti (1950), Mill...

Dubowics V. Muscle biopsy: a practical approach. 2nd ed. London: Bailliere Tindall, 1985:340-343 Consalez GG, Thomas NST, Stayton CL, et al. Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. Am J Hum Genet 199 1 ;48:468 -480 Yates JRW, Warner JP, Smith JA, et al. Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq2...

BACKGROUND For 20 years, physical activity has been an important component in the treatment of cystic fibrosis (CF) patients in Sweden. Data concerning physical performance in terms of muscular strength in these patients are limited OBJECTIVE To compare muscular strength and function in patients with CF with those aspects in a healthy control group (CG). DESIGN Thirty-three patients with CF...

Twenty-nine patients with myotonic dystrophy from 14 families were tested with the Wechsler and Shipley measures of cognitive function. Forty-one per cent of the subjects had little or no physical handicap. Approximately one-third had low Wechsler scores, whereas 7% had relatively high scores. There was a trend for affected females to have poorer cognitive function than males. Limited cognitive...

Duchenne muscular dystrophy (DMD) is a severe and progressive muscle-wasting disease caused by mutations in the dystrophin gene. Although dystrophin deficiency in myofiber triggers the disease's pathological changes, the degree of satellite cell (SC) dysfunction defines disease progression. Here, we have identified chicken ovalbumin upstream promoter-transcription factor II (COUP-TFII) hyperact...

BACKGROUND Pulmonary involvement is frequently observed in patients with limb girdle muscular dystrophy and occurs early in the disease. The aim of this study was to establish the prevalence of pulmonary dysfunction; the type of dysfunction; and any correlation between patient age, disease duration, or limb weakness and lung or respiratory muscle dysfunction. METHODS Twenty patients with stri...

Skeletal muscle is a target tissue of GH. Based on its anabolic properties, it is widely accepted that GH enhances muscle performance in sports and muscle function in the elderly. This paper critically reviews information on the effects of GH on muscle function covering structure, protein metabolism, the role of IGF1 mediation, bioenergetics and performance drawn from molecular, cellular and ph...

UNLABELLED Muscular architecture involves the organization of fibres in the muscle and is one of the most important factors of muscular function. Studies have demonstrated an association with muscular architecture and contraction, with an increase of the pennation angle in muscles. The aim of the study was to evaluate the change of muscular pennation angle after therapy with warm thermal water ...

Muscular dystrophies are characterized by a progressive loss of muscle tissue and/or muscle function. While metabolic alterations have been described in patients'-derived muscle biopsies, non-invasive readouts able to describe these alterations are needed in order to objectively monitor muscle condition and response to treatment targeting metabolic abnormalities. We used a metabolomic approach ...