Komlosi, Katalin, Hadzsiev, Kinga, Garbes, Lutz, Carrera, Lilian A. Martinez, Pal, Endre ORCID: 0000-0001-6525-0754, Sigurosson, Johann Haukur, Magnusson, Olafur, Melegh, Bela and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2014). Exome sequencing identifies Laing distal myopathy MYH7 meutation in a Roma family previously diagnosed with distal neuronopathy. Neuromusc. Disord., 24 (2). S. 156 - 162. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Full text not available from this repository.

Abstract

We describe a Hungarian Roma family originally investigated for autosomal dominant distal muscular atrophy. The mother started toe walking at 3 years and lost ambulation at age 27. Her three daughters presented with early steppage gait and showed variable progression. Muscle biopsies were nonspecific showing myogenic lesions in the mother and lesions resembling neurogenic atrophy in the two siblings. To identify the causative abnormality whole exome sequencing was performed in two affected girls and their unaffected father unexpectedly revealing the MYH7 mutation c.4849_4851delAAG (p.K1617del) in both girls reported to be causative for Laing distal myopathy. Sanger sequencing confirmed the mutation in the affected mother and third affected daughter. In line with variable severity in Laing distal myopathy our patients presented a more severe phenotype. Our case is the first demonstration of Laing distal myopathy in the Roma and the successful use of whole exome sequencing in obtaining a definitive diagnosis in ambiguous cases. (C) 2013 Elsevier B.V. All rights reserved.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Komlosi, KatalinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hadzsiev, KingaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garbes, LutzUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Carrera, Lilian A. MartinezUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pal, EndreUNSPECIFIEDorcid.org/0000-0001-6525-0754UNSPECIFIED
Sigurosson, Johann HaukurUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Magnusson, OlafurUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Melegh, BelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wirth, BrunhildeUNSPECIFIEDorcid.org/0000-0003-4051-5191UNSPECIFIED
URN: urn:nbn:de:hbz:38-446271
DOI: 10.1016/j.nmd.2013.10.010
Journal or Publication Title: Neuromusc. Disord.
Volume: 24
Number: 2
Page Range: S. 156 - 162
Date: 2014
Publisher: PERGAMON-ELSEVIER SCIENCE LTD
Place of Publication: OXFORD
ISSN: 1873-2364
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SPINAL MUSCULAR-ATROPHY; HYPERTROPHIC CARDIOMYOPATHY; MISSENSE MUTATION; MOTOR ADAPTER; BICD2; PATHOLOGY; LINKAGEMultiple languages
Clinical Neurology; NeurosciencesMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/44627

Downloads

Downloads per month over past year

Altmetric

Export

Actions (login required)

View Item View Item