Literature DB >> 9921869

Respiratory muscle involvement in Bethlem myopathy.

R U Haq1, M C Speer, M L Chu, R Tandan.   

Abstract

We report a patient from a previously reported family with autosomal dominant Bethlem myopathy who demonstrated childhood onset, slowly progressive limb-girdle muscle weakness, contractures, and progressive respiratory compromise. Chest x-ray, pulmonary function tests, and electrophysiologic studies suggested respiratory muscle involvement, thus expanding the clinical repertoire in Bethlem myopathy.

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Year:  1999        PMID： 9921869     DOI： 10.1212/wnl.52.1.174

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  10 in total

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Review 3.  Respiratory involvement in inherited primary muscle conditions.

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Review 5.  Congenital muscular dystrophies: a brief review.

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6.  Changes in muscle cell metabolism and mechanotransduction are associated with myopathic phenotype in a mouse model of collagen VI deficiency.

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7.  A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish.

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Review 8.  A muscle stem cell for every muscle: variability of satellite cell biology among different muscle groups.

Authors:  Matthew E Randolph; Grace K Pavlath
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9.  Collagen VI Null Mice as a Model for Early Onset Muscle Decline in Aging.

Authors:  Daniele Capitanio; Manuela Moriggi; Sara De Palma; Dario Bizzotto; Sibilla Molon; Enrica Torretta; Chiara Fania; Paolo Bonaldo; Cecilia Gelfi; Paola Braghetta
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10.  Diagnostic approach to the congenital muscular dystrophies.

Authors:  Carsten G Bönnemann; Ching H Wang; Susana Quijano-Roy; Nicolas Deconinck; Enrico Bertini; Ana Ferreiro; Francesco Muntoni; Caroline Sewry; Christophe Béroud; Katherine D Mathews; Steven A Moore; Jonathan Bellini; Anne Rutkowski; Kathryn N North
Journal:  Neuromuscul Disord       Date:  2014-01-09       Impact factor: 4.296
  10 in total

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