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Two patients with ‘Dropped head syndrome’ due to mutations inLMNAorSEPN1genes

Authors
Journal
Neuromuscular Disorders
0960-8966
Publisher
Elsevier
Publication Date
Volume
15
Issue
8
Identifiers
DOI: 10.1016/j.nmd.2005.03.006
Keywords
  • Dropped Head
  • Congenital Muscular Dystrophy
  • Lamin A/C
  • Sepn1
Disciplines
  • Biology

Abstract

Abstract Dropped head syndrome is characterized by severe weakness of neck extensor muscles with sparing of the flexors. It is a prominent sign in several neuromuscular conditions, but it may also be an isolated feature with uncertain aetiology. We report two children in whom prominent weakness of neck extensor muscles is associated with mutations in lamin A/C (LMNA) and selenoprotein N1 (SEPN1) genes, respectively. This report expands the underlying causes of the dropped head syndrome which may be the presenting feature of a congenital muscular dystrophy.

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