Literature DB >> 6196458

Congenital nemaline myopathy: two patients with consanguineous parents, one with a progressive course.

W F Arts, C J de Groot.   

Abstract

Clinical, morphological and genetic data are presented on two unrelated children with congenital nemaline myopathy. In one of these, the weakness and hypotonia were progressive. The parents of both children were second cousins. These cases together with those already published suggest that the frequency of consanguineous marriages in parents of children with nemaline myopathy is increased. This is a further argument in favour of an autosomal recessive type of congenital nemaline myopathy in addition to the autosomal dominant variety.

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Year:  1983        PMID: 6196458     DOI: 10.1007/bf00313639

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  19 in total

1.  NEMALINE MYOPATHY; A SECOND CASE.

Authors:  W K ENGEL; T WANKO; G M FENICHEL
Journal:  Arch Neurol       Date:  1964-07

2.  HEREDITARY OCCURRENCE OF NEMALINE MYOPATHY.

Authors:  A J SPIRO; C KENNEDY
Journal:  Arch Neurol       Date:  1965-08

3.  Nemaline myopathy: report of a fatal case, with histochemical and electron microscopic studies.

Authors:  S A Shafiq; V Dubowitz; H de C Peterson; A T Milhorat
Journal:  Brain       Date:  1967-12       Impact factor: 13.501

4.  Transformation of the histochemical profile of skeletal muscle by "foreign" innervation.

Authors:  G Karpati; W K Engel
Journal:  Nature       Date:  1967-09-30       Impact factor: 49.962

5.  Type I fiber atrophy and nemaline bodies.

Authors:  M Kinoshita; E Satoyoshi
Journal:  Arch Neurol       Date:  1974-12

6.  Morphometric study of motoneurons in congenital nemaline myopathy and Werdnig-Hoffmann disease.

Authors:  W C Robertson; Y Kawamura; P J Dyck
Journal:  Neurology       Date:  1978-10       Impact factor: 9.910

7.  Nemaline (rod) myopathy: the need for histochemical evaluation of affected families.

Authors:  A N Bender; J P Willner
Journal:  Ann Neurol       Date:  1978-07       Impact factor: 10.422

8.  Nemaline myopathy associated with consanguinity.

Authors:  M K Glynn; P Dervan; N Mulvihill
Journal:  Ir J Med Sci       Date:  1980-11       Impact factor: 1.568

9.  Nemaline myopathy. A long-term clinicopathologic study of affected mother and daughter.

Authors:  I J Hopkins; J R Lindsey; F R Ford
Journal:  Brain       Date:  1966-06       Impact factor: 13.501

10.  Nemaline myopathy. The origin of nemaline structures.

Authors:  N K Gonatas; G M Shy; E H Godfrey
Journal:  N Engl J Med       Date:  1966-03-10       Impact factor: 91.245

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  4 in total

Review 1.  Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

Authors:  K N North; N G Laing; C Wallgren-Pettersson
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Nemaline myopathy: a report of two siblings as evidence of autosomal recessive inheritance of the infantile type.

Authors:  J D Cartwright; D J Castle; M G Duffield; I Reef
Journal:  Postgrad Med J       Date:  1990-11       Impact factor: 2.401

3.  Genetics of congenital nemaline myopathy: a study of 10 families.

Authors:  C Wallgren-Pettersson; H Kääriäinen; J Rapola; T Salmi; J Jääskeläinen; M Donner
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

4.  Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.

Authors:  Mohammad AlMuhaizea; Omar Dabbagh; Hanan AlQudairy; Aljouhra AlHargan; Wafa Alotaibi; Ruba Sami; Rahaf AlOtaibi; Mariam Mahmoud Ali; Hindi AlHindi; Dilek Colak; Namik Kaya
Journal:  Genes (Basel)       Date:  2021-11-10       Impact factor: 4.096

  4 in total

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