Literature DB >> 2267214

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

J D Cartwright1, D J Castle, M G Duffield, I Reef.   

Abstract

We report two opposite-sex siblings with the severe infantile form of nemaline myopathy; diagnoses were made on muscle biopsy. Neither parent showed clinical or electromyographic evidence of myopathy, and both had negative muscle biopsies. Autosomal recessive inheritance seems likely.

Entities:  

Mesh：

Year:  1990        PMID： 2267214      PMCID： PMC2429764          DOI： 10.1136/pgmj.66.781.962

Source DB:  PubMed          Journal:  Postgrad Med J        ISSN： 0032-5473            Impact factor:   2.401


  9 in total

1.  Nemaline myopathy. A fatal case.

Authors:  I S Kolin
Journal:  Am J Dis Child       Date:  1967-07

2.  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

3.  Nemaline myopathy. A family study with three autopsied cases.

Authors:  H B Neustein
Journal:  Arch Pathol       Date:  1973-09

4.  A new concept of childhood nemaline myopathy.

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

Review 5.  Genetics of congenital nemaline myopathy.

Authors:  K Kondo; T Yuasa
Journal:  Muscle Nerve       Date:  1980 Jul-Aug       Impact factor: 3.217

6.  Investigations on the inheritance of nemaline myopathy.

Authors:  W F Arts; J Bethlem; K P Dingemans; A W Eriksson
Journal:  Arch Neurol       Date:  1978-02

7.  Fatal neonatal nemaline myopathy with multiple congenital anomalies.

Authors:  R D McComb; W R Markesbery; W N O'Connor
Journal:  J Pediatr       Date:  1979-01       Impact factor: 4.406

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

Authors:  W F Arts; C J de Groot
Journal:  J Neurol       Date:  1983       Impact factor: 4.849

9.  Fatal neonatal nemaline myopathy: a case report.

Authors:  M Tsujihata; C Shimomura; T Yoshimura; A Sato; T Ogawa; Y Tsuji; S Nagataki; T Matsuo
Journal:  J Neurol Neurosurg Psychiatry       Date:  1983-09       Impact factor: 10.154
  9 in total
  1 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
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.