Noteworthy Cases
Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation
William Huynh PhD, MBBS,
William Huynh PhD, MBBS
Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia
Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales, Australia
Search for more papers by this author Mark R. Davis PhD, FFSc,
Mark R. Davis PhD, FFSc
Department of Diagnostic Genomics, PathWest, Nedlands, Western Australia, Australia
Search for more papers by this author
William Huynh PhD, MBBS,
William Huynh PhD, MBBS
Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia
Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales, Australia
Search for more papers by this author Mark R. Davis PhD, FFSc,
Mark R. Davis PhD, FFSc
Department of Diagnostic Genomics, PathWest, Nedlands, Western Australia, Australia
Search for more papers by this author
First published: 16 July 2016
No abstract is available for this article.
- 1
Todd EJ,
Yau KS,
Ong R,
Slee J,
McGillivray G,
Barnett CP, et al. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. Orphanet J Rare Dis 2015; 10: 148.
- 2
Butterfield RJ,
Foley AR,
Dastgir J,
Asman S,
Dunn DM,
Zou Y, et al. Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. Hum Mutat 2013; 34: 1558–1567.
- 3
Bonnemann CG. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol 2011; 7: 379–390.
- 4
Gualandi F,
Urciuolo A,
Martoni E,
Sabatelli P,
Squarzoni S,
Bovolenta M, et al. Autosomal recessive Bethlem myopathy. Neurology 2009; 73: 1883–1891.
- 5
Hicks D,
Lampe AK,
Barresi R,
Charlton R,
Fiorillo C,
Bonnemann CG, et al. A refined diagnostic algorithm for Bethlem myopathy. Neurology 2008; 70: 1192–1199.
- 6
Deconinck N,
Richard P,
Allamand V,
Behin A,
Laforet P,
Ferreiro A, et al. Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution. J Neurol Neurosurg Psychiatry 2015; 86: 1337–1346.