منابع مشابه
Commentary Mutations causing muscle weakness
Transmission of signals from nerves to muscles is critical for life, so substantial safety factor mechanisms have evolved to ensure its success. Despite this, diseases can impair even this robust system. Characterizing these disease mechanisms greatly contributes to understanding this fundamental process. Neuromuscular transmission serves as a model for helping to understand neurotransmission t...
متن کاملFukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.
OBJECTIVE The fukutin gene (FKTN) is the causative gene for Fukuyama-type congenital muscular dystrophy, characterized by rather homogeneous clinical features of severe muscle wasting and hypotonia from early infancy with mental retardation. In contrast with the severe dystrophic involvement of skeletal muscle, cardiac insufficiency is quite rare. Fukuyama-type congenital muscular dystrophy is ...
متن کاملMuscle Weakness
Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department because of diverse forms of skeletal abnormalities. No definitive diagnosis was made, and all underwent a series of sophisticated investigations in ...
متن کاملMetastatic papillary thyroid carcinoma causing hand weakness.
433 A63-YEAR-OLD-WOMAN had right hand weakness accompanying a right neck mass. Examination revealed a large right thyroid mass, bilateral cervical lymphadenopathy, and weakness of the right intrinsic hand muscles and adductor pollicis. Magnetic resonance imaging (MRI) (Fig. 1) revealed a 6.5-cm thyroid mass (A) and a destructive lesion of C7 and T1 with spinal cord compression (B). Thyroid fine...
متن کاملVitamin D and Muscle Weakness.
A ubiquitous, vitamin-D deficiency is still unrecognized a n d u n d e r d i a g n o s e d . P r o x i m a l m u s c l e w e a k n e s s i s a c o m m o n symptom of vitamin-D deficiency and occurs before biochemical signs of its deficiency appears. Therefore, vitamin-D deficiency should be kept in the differential diagnosis for the muscle weakness, as it is reversible and easily treated with v...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1998
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.95.16.9070