Universität zu Köln

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

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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:	Creators Email ORCID ORCID Put Code Komlosi, Katalin UNSPECIFIED UNSPECIFIED UNSPECIFIED Hadzsiev, Kinga UNSPECIFIED UNSPECIFIED UNSPECIFIED Garbes, Lutz UNSPECIFIED UNSPECIFIED UNSPECIFIED Carrera, Lilian A. Martinez UNSPECIFIED UNSPECIFIED UNSPECIFIED Pal, Endre UNSPECIFIED orcid.org/0000-0001-6525-0754 UNSPECIFIED Sigurosson, Johann Haukur UNSPECIFIED UNSPECIFIED UNSPECIFIED Magnusson, Olafur UNSPECIFIED UNSPECIFIED UNSPECIFIED Melegh, Bela UNSPECIFIED UNSPECIFIED UNSPECIFIED Wirth, Brunhilde UNSPECIFIED orcid.org/0000-0003-4051-5191 UNSPECIFIED
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:	Keywords Language SPINAL MUSCULAR-ATROPHY; HYPERTROPHIC CARDIOMYOPATHY; MISSENSE MUTATION; MOTOR ADAPTER; BICD2; PATHOLOGY; LINKAGE Multiple languages Clinical Neurology; Neurosciences Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/44627