Literature DB >> 6768225

Epilepsy and myopathy in a patient with Rothmund-Thomson's syndrome.

J Lessem, I Bjerre, M Forslund.   

Abstract

A report of a 21-year-old female, who has had Rothmund-Thomson's syndrome since early childhood, is given. In addition to the original disease with skin and tendon manifestations, she has also developed myopathy and epilepsy. It is discussed whether these two recent manifestations are part of her original syndrome or of different pathogenesis.

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Year:  1980        PMID： 6768225     DOI： 10.1111/j.0954-6820.1980.tb09713.x

Source DB:  PubMed          Journal:  Acta Med Scand        ISSN： 0001-6101


  2 in total

1.  Case Report: Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia.

Authors:  Michiko Takimoto-Sato; Toshinari Miyauchi; Masaru Suzuki; Hideyuki Ujiie; Toshifumi Nomura; Tomoo Ikari; Tomohiko Nakamura; Kei Takahashi; Machiko Matsumoto-Sasaki; Hirokazu Kimura; Hiroki Kimura; Yuichiro Matsui; Takashi Kitagataya; Ren Yamada; Kazuharu Suzuki; Akihisa Nakamura; Masato Nakai; Takuya Sho; Koji Ogawa; Naoya Sakamoto; Naoko Yamaguchi; Noriyuki Otsuka; Utano Tomaru; Satoshi Konno
Journal:  Front Genet       Date:  2022-05-05       Impact factor: 4.772

2.  Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Authors:  Sandra Mercier; Sébastien Küry; Emmanuelle Salort-Campana; Armelle Magot; Uchenna Agbim; Thomas Besnard; Nathalie Bodak; Chantal Bou-Hanna; Flora Bréhéret; Perrine Brunelle; Florence Caillon; Brigitte Chabrol; Valérie Cormier-Daire; Albert David; Bruno Eymard; Laurence Faivre; Dominique Figarella-Branger; Emmanuelle Fleurence; Mythily Ganapathi; Romain Gherardi; Alice Goldenberg; Antoine Hamel; Jeanine Igual; Alan D Irvine; Dominique Israël-Biet; Caroline Kannengiesser; Christian Laboisse; Cédric Le Caignec; Jean-Yves Mahé; Stéphanie Mallet; Stuart MacGowan; Maeve A McAleer; Irwin McLean; Cécile Méni; Arnold Munnich; Jean-Marie Mussini; Peter L Nagy; Jeffrey Odel; Grainne M O'Regan; Yann Péréon; Julie Perrier; Juliette Piard; Eve Puzenat; Jacinda B Sampson; Frances Smith; Nadem Soufir; Kurenai Tanji; Christel Thauvin; Christina Ulane; Rosemarie M Watson; Nonhlanhla P Khumalo; Bongani M Mayosi; Sébastien Barbarot; Stéphane Bézieau
Journal:  Orphanet J Rare Dis       Date:  2015-10-15       Impact factor: 4.123
  2 in total

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