Universität zu Köln

Lohkamp, Laura Nanna, von Au, Katja, Goebel, Hans-Hilmar, Kress, Wolfram, Grieben, Ulrike, Drossel, Karin, Garbes, Lutz, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Heppner, Frank L. and Stenzel, Werner (2014). A Paucisymptomatic Neuromuscular Disease Mimicking Type III 5q-SMA With Complex Rearrangements in the SMN Gene. J. Child Neurol., 29 (2). S. 254 - 260. THOUSAND OAKS: SAGE PUBLICATIONS INC. ISSN 1708-8283

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Abstract

Spinal muscular atrophy is an autosomal-recessive neuromuscular disorder, causing progressive proximal weakness and atrophy of the voluntary muscles. More than 96% of the spinal muscular atrophy patients show a homozygous absence of exons 7 and 8, or exon 7 only, in SMN1, the telomeric copy of the SMN gene. We report a young male patient with neurogenic symptoms and sparse muscle fiber atrophy, suggestive of a mild form of type III spinal muscular atrophy. He was found to be a carrier of intragenic mutations in both copies of the SMN gene, exhibiting a homozygous duplication of exons 7 and 8 in SMN1 and a homozygous deletion of exon 8 as well as a heterozygous deletion of exon 7 in SMN2. However, an intact full-length SMN1 complementary deoxyribonucleic acid was identified, and SMN protein levels in a muscle specimen were identical to that of a healthy control, formally excluding the diagnosis of spinal muscular atrophy III.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Lohkamp, Laura Nanna UNSPECIFIED UNSPECIFIED UNSPECIFIED von Au, Katja UNSPECIFIED UNSPECIFIED UNSPECIFIED Goebel, Hans-Hilmar UNSPECIFIED UNSPECIFIED UNSPECIFIED Kress, Wolfram UNSPECIFIED UNSPECIFIED UNSPECIFIED Grieben, Ulrike UNSPECIFIED UNSPECIFIED UNSPECIFIED Drossel, Karin UNSPECIFIED UNSPECIFIED UNSPECIFIED Garbes, Lutz UNSPECIFIED UNSPECIFIED UNSPECIFIED Wirth, Brunhilde UNSPECIFIED orcid.org/0000-0003-4051-5191 UNSPECIFIED Heppner, Frank L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Stenzel, Werner UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-447354
DOI:	10.1177/0883073813511858
Journal or Publication Title:	J. Child Neurol.
Volume:	29
Number:	2
Page Range:	S. 254 - 260
Date:	2014
Publisher:	SAGE PUBLICATIONS INC
Place of Publication:	THOUSAND OAKS
ISSN:	1708-8283
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language SPINAL MUSCULAR-ATROPHY; COPY NUMBER; SURVIVAL Multiple languages Clinical Neurology; Pediatrics Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/44735