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Exon skipping in Duchenne Muscle dystrophy due to a silent p.Ser443= mutation in the DMD gene.
J Clin Neurosci
June 2020
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Germany.
Duchenne Muscle dystrophy (DMD) is a X-linked inherited disease predominantly caused by severe mutations in DMD gene leading to absence of dystrophin protein. Here we report a 14-year-old Mongolian boy suffering from proximal muscle weakness, pseudohypertrophic deltoid and gastrocnemius muscles since early childhood. Lactate dehydrogenase (LDH) and creatine kinase (CK) levels were elevated.
View Article and Find Full Text PDF[Pseudohypertrophic proximal progressive muscular dystrophy with a malignant course manifesting itself in adolescence].
Zh Nevropatol Psikhiatr Im S S Korsakova
July 1989
The authors describe an unique case of progressive muscular dystrophy in four brothers T. The disease was peculiar in its debut in adolescence, localization of muscular atrophies in proximal limbs, pseudohypertrophy of various muscular groups, malignant course of the myodystrophy with concomitant endocrine and metabolic disorders. A primarily muscular nature of the disease was confirmed in electrophysiological and pathological investigation.
View Article and Find Full Text PDF[Pseudohypertrophic forms of progressive muscular dystrophy with the onset at puberty and a malignant course of the myodystrophic process].
Zh Nevropatol Psikhiatr Im S S Korsakova
July 1988
The article describes two familial cases of pseudohypertrophic progressive muscular dystrophy with an onset in the pubertal age and a malignant course of the myodystrophic process. The cases presented are the first ever reported in the world literature. The questions of inter- and intrafamilial polymorphism of recessive X-linked forms of progressive muscular dystrophies are discussed.
View Article and Find Full Text PDFA series of 95 families, consisting of 317 patients with severe and mild X-linked proximal pseudohypertrophic muscular dystrophy (MD), was analysed by the use of two different and rigid clinical criteria based on the age when the patient became chairbound. Using these criteria the families from Erfurt and Warsaw could be clearly separated into classical Duchenne (DMD) and classical Becker (BMD) type patients. A third group of patients was found with atypical clinical course, who could not be identified as neither Duchenne nor Becker cases.
View Article and Find Full Text PDFOne family of benign X-linked pseudohypertrophic muscular dystrophy of early onset.
Hiroshima J Med Sci
September 1984
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