Publication
Title
Laing early-onset distal myopathy in a Belgian family
Author
Abstract
We report the first Belgian family with Laing early-onset distal myopathy (MPD1). The proposita started limping at age 7. Later, there was severe weakness of proximal and distal muscles, including neck flexors. Her daughter developed foot drop at age 4. Progressive weakness of distal limb extensor muscles and mild weakness of the neck flexor and proximal muscles were noted. In both patients, CK and nerve conductions were normal, but EMG showed a brief, small amplitude, abundant, polyphasic potential pattern. Heart and respiration were normal. Several muscle biopsies have been performed in each with various diagnoses, including aspecific myopathic changes, congenital fibre type disproportion, and denervationreinnervation. Analysis of MYH7 revealed a c.4522_4524del mutation (p.Glu1508del). This appears to be a de novo mutation, which has been reported in French, Norwegian, and Finnish patients.
Language
English
Source (journal)
Acta neurologica Belgica. - Bruxelles
Publication
Bruxelles : 2014
ISSN
0300-9009 [print]
2240-2993 [online]
Volume/pages
114:4(2014), p. 253-256
ISI
000345405200001
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 22.04.2014
Last edited 16.07.2017
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