Literature DB >> 16534588

Muscle weakness as presenting symptom of osteogenesis imperfecta.

Annemieke M Boot1, Rene F M de Coo, Gerard Pals, Sabine M P F de Muinck Keizer-Schrama.   

Abstract

A young boy presented with severe muscle weakness of his legs at the age of 2 years. Muscle morphology and computer tomography imaging findings were compatible with a metabolic myopathy. Additional investigation showed an osteopenic skeleton and signs of healing fractures. A skin biopsy showed an abnormal electrophoresis pattern of collagen, consistent with a variant of osteogenesis imperfecta. The patient improved with intravenous treatment with pamidronate.

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Year:  2006        PMID： 16534588     DOI： 10.1007/s00431-006-0083-6

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  7 in total

1.  Collagen overglycosylation: a biochemical feature that may contribute to bone quality.

Authors:  Ligia J Dominguez; Mario Barbagallo; Luigi Moro
Journal:  Biochem Biophys Res Commun       Date:  2005-04-29       Impact factor: 3.575

2.  Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta.

Authors:  E Aström; S Söderhäll
Journal:  Arch Dis Child       Date:  2002-05       Impact factor: 3.791

3.  Reference data for bone density and body composition measured with dual energy x ray absorptiometry in white children and young adults.

Authors:  I M van der Sluis; M A J de Ridder; A M Boot; E P Krenning; S M P F de Muinck Keizer-Schrama
Journal:  Arch Dis Child       Date:  2002-10       Impact factor: 3.791

Review 4.  Osteogenesis imperfecta.

Authors:  Frank Rauch; Francis H Glorieux
Journal:  Lancet       Date:  2004-04-24       Impact factor: 79.321

5.  Rapid increase in grip force after start of pamidronate therapy in children and adolescents with severe osteogenesis imperfecta.

Authors:  Kathleen Montpetit; Horacio Plotkin; Frank Rauch; Nathalie Bilodeau; Suzanne Cloutier; Mary Rabzel; Francis H Glorieux
Journal:  Pediatrics       Date:  2003-05       Impact factor: 7.124

6.  A cross-sectional study on biochemical parameters of bone turnover and vitamin d metabolites in healthy dutch children and young adults.

Authors:  Inge M van der Sluis; Wim C Hop; Johannes P T M van Leeuwen; Huib A P Pols; Sabine M P F de Muinck Keizer-Schrama
Journal:  Horm Res       Date:  2002

7.  Cyclic administration of pamidronate in children with severe osteogenesis imperfecta.

Authors:  F H Glorieux; N J Bishop; H Plotkin; G Chabot; G Lanoue; R Travers
Journal:  N Engl J Med       Date:  1998-10-01       Impact factor: 91.245
  7 in total
  6 in total

1.  Skeletal muscle weakness in osteogenesis imperfecta mice.

Authors:  Bettina A Gentry; J Andries Ferreira; Amanda J McCambridge; Marybeth Brown; Charlotte L Phillips
Journal:  Matrix Biol       Date:  2010-07-06       Impact factor: 11.583

2.  'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia.

Authors:  Sandra Donkervoort; Alice Schindler; Carolina Tesi-Rocha; Allison Schreiber; Meganne E Leach; Jahannaz Dastgir; Ying Hu; Ami Mankodi; Kathryn R Wagner; Neil R Friedman; Carsten G Bönnemann
Journal:  Neuromuscul Disord       Date:  2013-08-11       Impact factor: 4.296

3.  Muscle contraction induces osteogenic levels of cortical bone strain despite muscle weakness in a mouse model of Osteogenesis Imperfecta.

Authors:  Alycia G Berman; Jason M Organ; Matthew R Allen; Joseph M Wallace
Journal:  Bone       Date:  2019-12-02       Impact factor: 4.398

Review 4.  Bone and muscle: Interactions beyond mechanical.

Authors:  Marco Brotto; Lynda Bonewald
Journal:  Bone       Date:  2015-11       Impact factor: 4.398

5.  Administration of soluble activin receptor 2B increases bone and muscle mass in a mouse model of osteogenesis imperfecta.

Authors:  Douglas J DiGirolamo; Vandana Singhal; Xiaoli Chang; Se-Jin Lee; Emily L Germain-Lee
Journal:  Bone Res       Date:  2015-02-10       Impact factor: 13.567

Review 6.  Muscle abnormalities in osteogenesis imperfecta.

Authors:  L N Veilleux; P Trejo; F Rauch
Journal:  J Musculoskelet Neuronal Interact       Date:  2017-06-01       Impact factor: 2.041
  6 in total

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