Literature DB >> 3350979

Autosomal recessive distal myopathy.

H Isaacs1, M E Badenhorst, T Whistler.   

Abstract

Five patients with an autosomally recessively transmitted distal myopathy were investigated. Of these, three belonged to a single sibship. Studies included electromyography, histological examination of muscle tissue, histochemical, electron microscopical, and biochemical analyses. One of the cases resembled the Nonaka form while the others were regarded as expressions of the commoner variety of recessive distal dystrophy.

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Year:  1988        PMID: 3350979      PMCID: PMC1141376          DOI: 10.1136/jcp.41.2.188

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN: 0021-9746            Impact factor:   3.411


  16 in total

1.  Muscle phosphofructokinase deficiency.

Authors:  R B Layzer; L P Rowland; H M Ranney
Journal:  Arch Neurol       Date:  1967-11

2.  Distal myopathy with onset in early infancy.

Authors:  V A Does de Willebois AE; A E Meyer; A J Simons; J Bethlem
Journal:  Neurology       Date:  1968-04       Impact factor: 9.910

3.  Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.

Authors:  I Nonaka; N Sunohara; S Ishiura; E Satoyoshi
Journal:  J Neurol Sci       Date:  1981-07       Impact factor: 3.181

4.  A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments.

Authors:  L Edström; L E Thornell; A Eriksson
Journal:  J Neurol Sci       Date:  1980-08       Impact factor: 3.181

5.  Distal myopathy: electron microscopic and histochemical studies.

Authors:  W R Markesbery; R C Griggs; B Herr
Journal:  Neurology       Date:  1977-08       Impact factor: 9.910

6.  Sporadic distal myopathy.

Authors:  M L Vaccario; C Scoppetta; R Bracaglia; A Uncini
Journal:  J Neurol       Date:  1981       Impact factor: 4.849

7.  Sporadic distal myopathy with early adult onset.

Authors:  R G Miller; N K Blank; R B Layzer
Journal:  Ann Neurol       Date:  1979-03       Impact factor: 10.422

8.  A new type of distal myopathy in two brothers.

Authors:  E Kuhn; J M Schröder
Journal:  J Neurol       Date:  1981       Impact factor: 4.849

9.  Hereditary distal myopathy with onset in early infancy. Observation of a family.

Authors:  J Bautista; E Rafel; J M Castilla; R Alberca
Journal:  J Neurol Sci       Date:  1978-07       Impact factor: 3.181

10.  Myoadenylate deaminase deficiency--muscle biopsy and muscle culture in a patient with gout.

Authors:  S DiMauro; A F Miranda; A P Hays; W A Franck; G S Hoffman; R S Schoenfeldt; N Singh
Journal:  J Neurol Sci       Date:  1980-08       Impact factor: 3.181

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  2 in total

Review 1.  Distal myopathies.

Authors:  Mazen M Dimachkie; Richard J Barohn
Journal:  Neurol Clin       Date:  2014-05-15       Impact factor: 3.806

2.  The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.

Authors:  E S Moreira; M Vainzof; S K Marie; A L Sertié; M Zatz; M R Passos-Bueno
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

  2 in total

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