Fingerprint body myopathy: a report of twins / Richard G. CURLESS in Developmental Medicine & Child Neurology, 20-6 (December 1978)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 20-6 (December 1978) . - p.793-798 Titre : Fingerprint body myopathy: a report of twins Type de document : Texte imprimé et/ou numérique Auteurs : Richard G. CURLESS, Auteur ; Claire M. PAYNE, Auteur ; Francis M. BRINNER, Auteur Année de publication : 1978 Article en page(s) : p.793-798 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Ultramicroscopic changes of subsarcolemmal fingerprints in the muscle of children with infantile hypotonia and weakness may represent a specific congenital entity. Four children have been reported so far. The two children reported in the present paper are the first full siblings to be described and, in addition, are identical twins. Four of these six children also had mental retardation, which suggests that this disorder may carry with it a significant risk of central nervous system abnormality. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 [article] Fingerprint body myopathy: a report of twins [Texte imprimé et/ou numérique] / Richard G. CURLESS, Auteur ; Claire M. PAYNE, Auteur ; Francis M. BRINNER, Auteur . - 1978 . - p.793-798. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 20-6 (December 1978) . - p.793-798 Index. décimale : PER Périodiques Résumé : Ultramicroscopic changes of subsarcolemmal fingerprints in the muscle of children with infantile hypotonia and weakness may represent a specific congenital entity. Four children have been reported so far. The two children reported in the present paper are the first full siblings to be described and, in addition, are identical twins. Four of these six children also had mental retardation, which suggests that this disorder may carry with it a significant risk of central nervous system abnormality. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486

Histological patterns of muscle in infants with developmental brain abnormalities / Richard G. CURLESS in Developmental Medicine & Child Neurology, 20-2 (April 1978)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 20-2 (April 1978) . - p.159-166 Titre : Histological patterns of muscle in infants with developmental brain abnormalities Type de document : Texte imprimé et/ou numérique Auteurs : Richard G. CURLESS, Auteur ; Marilyn B. NELSON, Auteur ; Frances BRIMMER, Auteur Année de publication : 1978 Article en page(s) : p.159-166 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The histology of muscle obtained from 23 hypotonic infants without neuromuscular disease is presented. Long-term follow-up neurological examinations were carried out to determine the site of the lesion. 18 cases have strong evidence of cerebral dysfunction, 12 of whom have histologial abnormalities of fiber-type distribution and diameter. Of the remaining five patients without obvious cerebral abnormality, four also had histological changes, but individual circumstances partially explain the cause of the abnormal histological patterns in these four. No single histological abnormality could be identified, but the results indicate that histological abnormalities of muscle in hypotonic infants without clinical or microscopic evidence of neuromuscular disease may be useful in predicting a cerebral cause for the hypotonia. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 [article] Histological patterns of muscle in infants with developmental brain abnormalities [Texte imprimé et/ou numérique] / Richard G. CURLESS, Auteur ; Marilyn B. NELSON, Auteur ; Frances BRIMMER, Auteur . - 1978 . - p.159-166. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 20-2 (April 1978) . - p.159-166 Index. décimale : PER Périodiques Résumé : The histology of muscle obtained from 23 hypotonic infants without neuromuscular disease is presented. Long-term follow-up neurological examinations were carried out to determine the site of the lesion. 18 cases have strong evidence of cerebral dysfunction, 12 of whom have histologial abnormalities of fiber-type distribution and diameter. Of the remaining five patients without obvious cerebral abnormality, four also had histological changes, but individual circumstances partially explain the cause of the abnormal histological patterns in these four. No single histological abnormality could be identified, but the results indicate that histological abnormalities of muscle in hypotonic infants without clinical or microscopic evidence of neuromuscular disease may be useful in predicting a cerebral cause for the hypotonia. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476

Needle biopsies of muscle in infants for diagnosis and research / Richard G. CURLESS in Developmental Medicine & Child Neurology, 17-5 (October 1975)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 17-5 (October 1975) . - p.592-601 Titre : Needle biopsies of muscle in infants for diagnosis and research Type de document : Texte imprimé et/ou numérique Auteurs : Richard G. CURLESS, Auteur ; Marilyn B. NELSON, Auteur Année de publication : 1975 Article en page(s) : p.592-601 Langues : Anglais (eng) Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442 [article] Needle biopsies of muscle in infants for diagnosis and research [Texte imprimé et/ou numérique] / Richard G. CURLESS, Auteur ; Marilyn B. NELSON, Auteur . - 1975 . - p.592-601. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 17-5 (October 1975) . - p.592-601 Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442

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