Literature DB >> 130467

Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study.

H Isaacs, J J Heffron, M Badenhorst.   

Abstract

Two patients suffering from central core disease are presented. The condition is associated with musculoskeletal abnormalities which have been traced back over five generations. In addition to the typical histochemical findings, electronmicroscopic study has revealed the presence of both structured and non-structured cores in adjacent areas. The calcium uptake by the sarcoplasmic reticulum was reduced to one-third of normal. Phosphorylase activity was normal in the one case and reduced to 63% in the other. Actomyosin Mg2+-activated ATPase activity was decreased, as was the Ca2+-dependent ATPase of the sarcoplasmic reticulum.

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Year:  1975        PMID： 130467      PMCID： PMC492184          DOI： 10.1136/jnnp.38.12.1177

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  26 in total

Review 1.  Malignant hyperthermia: aetiology unknown.

Authors:  B A Britt; W Kalow
Journal:  Can Anaesth Soc J       Date:  1970-07

2.  Central-core disease and malignant hyperpyrexia.

Authors:  M A Denborough; X Dennett; R M Anderson
Journal:  Br Med J       Date:  1973-02-03

3.  Early biochemical consequences of denervation in fast and slow skeletal muscles and their relationship to neural control over muscle differentiation.

Authors:  A Margreth; G Salviati; S Di Mauro; G Turati
Journal:  Biochem J       Date:  1972-03       Impact factor: 3.857

4.  A new concept of childhood nemaline myopathy.

Authors:  G Karpati; S Carpenter; F Andermann
Journal:  Arch Neurol       Date:  1971-04

5.  Central core disease with congenital hip dislocation: study of two families.

Authors:  R M Armstrong; R Koenigsberger; J Mellinger; R E Lovelace
Journal:  Neurology       Date:  1971-04       Impact factor: 9.910

6.  The syndrome of 'continuous muscle-fibre activity' cured: further studies.

Authors:  H Isaacs; J J Heffron
Journal:  J Neurol Neurosurg Psychiatry       Date:  1974-11       Impact factor: 10.154

7.  Temperature, pH and seasonal dependence of Ca-uptake and ATPase activity of white and red muscle microsomes.

Authors:  F A Sreter
Journal:  Arch Biochem Biophys       Date:  1969-10       Impact factor: 4.013

8.  Central core disease associated with elevated creatine phosphokinase levels. Two members of a family known to be susceptible to malignant hyperpyrexia.

Authors:  H Isaacs; M B Barlow
Journal:  S Afr Med J       Date:  1974-03-30

9.  The pattern of terminal motor innervation in healthy young adults.

Authors:  C Coërs; E Reske-Nielsen; A Harmsen
Journal:  J Neurol Sci       Date:  1973-07       Impact factor: 3.181

10.  Screening for malignant hyperpyrexia.

Authors:  F R Ellis; N P Keaney; D G Harriman; D W Sumner; K Kyei-Mensah; J H Tyrrell; J B Hargreaves; R K Parikh; P L Mulrooney
Journal:  Br Med J       Date:  1972-09-02
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  15 in total

1.  Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.

Authors:  G Avila; J J O'Brien; R T Dirksen
Journal:  Proc Natl Acad Sci U S A       Date:  2001-03-27       Impact factor: 11.205

2.  Assignment of the gene for central core disease to chromosome 19.

Authors:  E A Haan; C J Freemantle; J A McCure; K L Friend; J C Mulley
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

3.  Late components of motor unit potentials in central core disease.

Authors:  J M Lopez-Terradas; M C Lopez
Journal:  J Neurol Neurosurg Psychiatry       Date:  1979-05       Impact factor: 10.154

4.  Is central core disease with structural core a fetal defect?

Authors:  A Fidziańska; I Niebrój-Dobosz; B Badurska; B Ryniewicz
Journal:  J Neurol       Date:  1984       Impact factor: 4.849

5.  Teaching monograph: pathology of skeletal muscle diseases.

Authors:  U U DeGirolami; T W Smith
Journal:  Am J Pathol       Date:  1982-05       Impact factor: 4.307

6.  Coexistence of minicores, cores, and rods in the same muscle biopsy. A new example of mixed congenital myopathy.

Authors:  J M Vallat; L de Lumley; A Loubet; M J Leboutet; N Corvisier; R Umdenstock
Journal:  Acta Neuropathol       Date:  1982       Impact factor: 17.088

7.  Single fibre electromyography in central core disease.

Authors:  A Cruz Martínez; M T Ferrer; J M López-Terradas; I Pascual-Castroviejo; P Mingo
Journal:  J Neurol Neurosurg Psychiatry       Date:  1979-07       Impact factor: 10.154

8.  Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.

Authors:  L Fananapazir; M C Dalakas; F Cyran; G Cohn; N D Epstein
Journal:  Proc Natl Acad Sci U S A       Date:  1993-05-01       Impact factor: 11.205

9.  Characterization and temporal development of cores in a mouse model of malignant hyperthermia.

Authors:  Simona Boncompagni; Ann E Rossi; Massimo Micaroni; Susan L Hamilton; Robert T Dirksen; Clara Franzini-Armstrong; Feliciano Protasi
Journal:  Proc Natl Acad Sci U S A       Date:  2009-12-04       Impact factor: 11.205

10.  Minicore myopathy.

Authors:  F Gullotta; L Pavone; M La Rosa; A Grasso
Journal:  Klin Wochenschr       Date:  1982-11-02
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