Literature DB >> 7077346

Autosomal dominant multicore disease.

J A Vanneste, F C Stam.   

Abstract

Two girls and their mother with multicore myopathy are described. The cores consisted of Z band disorganisation and decreased or absent enzyme activity. Only one case has clinical signs of myopathy. Muscle enzyme activity was elevated in the two children. The mode of inheritance was autosomal dominant.

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Year:  1982        PMID： 7077346      PMCID： PMC491373          DOI： 10.1136/jnnp.45.4.360

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


  8 in total

1.  Control of the malignant hyperpyrexic syndrome in MHS swine by dantrolene sodium.

Authors:  G G Harrison
Journal:  Br J Anaesth       Date:  1975-01       Impact factor: 9.166

2.  Multicore disease in twins.

Authors:  R Heffner; M Cohen; P Duffner; G Daigler
Journal:  J Neurol Neurosurg Psychiatry       Date:  1976-06       Impact factor: 10.154

Review 3.  Muscle biopsies in neuromuscular diseases.

Authors:  W K Engel
Journal:  Pediatr Clin North Am       Date:  1967-11       Impact factor: 3.278

4.  Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers.

Authors:  A G Engel; M R Gomez; R V Groover
Journal:  Mayo Clin Proc       Date:  1971-10       Impact factor: 7.616

5.  Multicore disease: report of a case with onset in middle age.

Authors:  H Bonnette; R Roelofs; W H Olson
Journal:  Neurology       Date:  1974-11       Impact factor: 9.910

6.  Incidence of Z band streaming and myofibrillar disruptions in skeletal muscle from healthy young people.

Authors:  H Y Meltzer; R W Kuncl; V Yang
Journal:  Neurology       Date:  1976-09       Impact factor: 9.910

7.  Common origin of rods, cores, miniature cores, and focal loss of cross-striations.

Authors:  J Bethlem; W F Arts; K P Dingemans
Journal:  Arch Neurol       Date:  1978-09

8.  Familial focal loss of cross striations.

Authors:  G K van Wijngaarden; J Bethlem; K P Dingemans; C Coërs; N Telerman-Toppet; J M Gérard
Journal:  J Neurol       Date:  1977-10-07       Impact factor: 4.849
  8 in total
  2 in total

1.  The rigid spine syndrome in two sisters.

Authors:  J A Vanneste; P B Augustijn; F C Stam
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-01       Impact factor: 10.154

Review 2.  Multi-minicore Disease.

Authors:  Heinz Jungbluth
Journal:  Orphanet J Rare Dis       Date:  2007-07-13       Impact factor: 4.123
  2 in total

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