Literature DB >> 2710154

Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules.

K Hayashi1, R G Miller, A K Brownell.   

Abstract

The modified Golgi staining method was used to study the sarcoplasmic reticulum (SR) and t- tubules of skeletal muscle in central core disease. Significant pathological changes were documented in both of these organelles in seven patients. Pathological changes were seen in both core and non-core regions, with the abnormalities being greatest in the cores. In noncore regions, distortions in the normal anatomy were minor. In cores, there was much more significant distortion of the normal anatomy and also an increase in the amount of SR and number of t-tubules.

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Year:  1989        PMID: 2710154     DOI: 10.1002/mus.880120203

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN: 0148-639X            Impact factor:   3.217


  16 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

Review 2.  [Central core myopathy: a juvenile and adult disease].

Authors:  H J Gdynia; A-D Sperfeld; C O Hanemann
Journal:  Nervenarzt       Date:  2007-04       Impact factor: 1.214

3.  A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.

Authors:  P J Lynch; J Tong; M Lehane; A Mallet; L Giblin; J J Heffron; P Vaughan; G Zafra; D H MacLennan; T V McCarthy
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-30       Impact factor: 11.205

4.  Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor.

Authors:  G Avila; R T Dirksen
Journal:  J Gen Physiol       Date:  2001-09       Impact factor: 4.086

5.  Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

Authors:  B M Manning; K A Quane; H Ording; A Urwyler; V Tegazzin; M Lehane; J O'Halloran; E Hartung; L M Giblin; P J Lynch; P Vaughan; K Censier; D Bendixen; G Comi; L Heytens; K Monsieurs; T Fagerlund; W Wolz; J J Heffron; C R Muller; T V McCarthy
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

6.  The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging.

Authors:  Simona Boncompagni; Ryan E Loy; Robert T Dirksen; Clara Franzini-Armstrong
Journal:  Aging Cell       Date:  2010-10-21       Impact factor: 9.304

Review 7.  Congenital myopathies.

Authors:  Claudio Bruno; Carlo Minetti
Journal:  Curr Neurol Neurosci Rep       Date:  2004-01       Impact factor: 5.081

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.  Central core disease: clinical, pathological, and genetic features.

Authors:  R M Quinlivan; C R Muller; M Davis; N G Laing; G A Evans; J Dwyer; J Dove; A P Roberts; C A Sewry
Journal:  Arch Dis Child       Date:  2003-12       Impact factor: 3.791

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