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Journal Article
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
Schessl, Joachim, Bach, Elisa, Rost, Simone, Feldkirchner, Sarah, Kubny, Christiana, Mueller, Stefan, Hanisch, Franz-Georg, Kress, Wolfram and Schoser, Benedikt ORCID: 0000-0002-2757-8131
(2014).
Novel recessive myotilin mutation causes severe myofibrillar myopathy.
Neurogenetics, 15 (3).
S. 151 - 157.
NEW YORK:
SPRINGER.
ISSN 1364-6753