Literature DB >> 4406232

Chondrodystrophic myotonia. A report of two unrelated Dutch patients.

A C van Huffelen, F J Gabreĕls, J S Luypen-vd Horst, J L Slooff, A M Stadhouders, J J Korten.   

Abstract

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Year:  1974        PMID： 4406232     DOI： 10.1055/s-0028-1091690

Source DB:  PubMed          Journal:  Neuropadiatrie        ISSN： 0028-3797


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  4 in total

1.  Schwartz-Jampel syndrome in two daughters of first cousins.

Authors:  L Pavone; F Mollica; A Grasso; A Cao; F Gullotta
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-02       Impact factor: 10.154

2.  Skeletal dysplasias associated with mild myopathy-a clinical and molecular review.

Authors:  Katarzyna A Piróg; Michael D Briggs
Journal:  J Biomed Biotechnol       Date:  2010-05-24

3.  Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome.

Authors:  A Richieri-Costa; S M Garcia da Silva; O Frota-Pessoa
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

4.  New therapeutic targets in rare genetic skeletal diseases.

Authors:  Michael D Briggs; Peter A Bell; Michael J Wright; Katarzyna A Pirog
Journal:  Expert Opin Orphan Drugs       Date:  2015-09-24       Impact factor: 0.694
  4 in total

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