Literature DB >> 10382907

Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy.

B Newman1, G Meola, D G O'Donovan, A H Schapira, H Kingston.   

Abstract

Proximal myotonic myopathy is a recently described autosomal dominant condition characterized by proximal myopathy, cataracts, intermittent myotonia, and myalgia. We report a further family with this condition. The proband and her two sisters presented with myotonia during pregnancy which resolved after each delivery. Two sisters experienced myalgia between each pregnancy. This relationship between pregnancy and symptom exacerbation suggests an intriguing hormonal influence in PROMM.

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Mesh：

Year:  1999        PMID： 10382907     DOI： 10.1016/s0960-8966(98)00118-7

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  8 in total

1.  [Musculoskeletal pain as the most prominent feature in myotonic dystrophy type 2].

Authors:  A George; C Schneider-Gold; K Reiners; C Sommer
Journal:  Schmerz       Date:  2006-09       Impact factor: 1.107

Review 2.  Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.

Authors:  Giovanni Meola; Rosanna Cardani
Journal:  Neurol Sci       Date:  2017-01-11       Impact factor: 3.307

Review 3.  Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.

Authors:  Giovanni Meola; Fiammetta Biasini; Rea Valaperta; Elena Costa; Rosanna Cardani
Journal:  J Neurol       Date:  2017-05-26       Impact factor: 4.849

Review 4.  Myotonic dystrophy type 2 and related myotonic disorders.

Authors:  Giovanni Meola; Richard T Moxley
Journal:  J Neurol       Date:  2004-10       Impact factor: 4.849

5.  Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

Authors:  Linda L Bachinski; Bjarne Udd; Giovanni Meola; Valeria Sansone; Guillaume Bassez; Bruno Eymard; Charles A Thornton; Richard T Moxley; Peter S Harper; Mark T Rogers; Karin Jurkat-Rott; Frank Lehmann-Horn; Thomas Wieser; Josep Gamez; Carmen Navarro; Armand Bottani; Andre Kohler; Mark D Shriver; Riitta Sallinen; Maija Wessman; Shanxiang Zhang; Fred A Wright; Ralf Krahe
Journal:  Am J Hum Genet       Date:  2003-09-10       Impact factor: 11.025

Review 6.  Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.

Authors:  Giovanni Meola
Journal:  Acta Myol       Date:  2013-12

7.  Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism.

Authors:  Giovanni Meola; Rosanna Cardani
Journal:  J Neuromuscul Dis       Date:  2015-07-22

8.  Myotonic dystrophy type 2: the 2020 update.

Authors:  Giovanni Meola
Journal:  Acta Myol       Date:  2020-12-01
  8 in total

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