Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies

Highlights • We identified TOR1AIP1 as a novel gene responsible for a myopathy with contractures. • Expression of LAP1B is absent in the patient skeletal muscle fibres. • Ultrastructural alterations of the nuclear envelope are observed. • Overexpression of LULL1 is detected in patient skeletal muscl...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2014-07, Vol.24 (7), p.624-633
Hauptverfasser:	Kayman-Kurekci, Gulsum, Talim, Beril, Korkusuz, Petek, Sayar, Nilufer, Sarioglu, Turkan, Oncel, Ibrahim, Sharafi, Parisa, Gundesli, Hulya, Balci-Hayta, Burcu, Purali, Nuhan, Serdaroglu-Oflazer, Piraye, Topaloglu, Haluk, Dincer, Pervin
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Amino Acid Sequence Carrier Proteins - metabolism Cytoskeletal Proteins DNA Mutational Analysis Family Female Fluorescent Antibody Technique Frameshift Mutation Humans LAP1 Male Membrane Proteins - genetics Membrane Proteins - metabolism Microscopy, Electron, Transmission Molecular Sequence Data Muscle Fibers, Skeletal - metabolism Muscular Dystrophies - genetics Muscular Dystrophies - metabolism Muscular Dystrophies - pathology Muscular dystrophy Myopathy Neurology Nuclear Envelope - metabolism Nuclear Envelope - ultrastructure Nuclear Proteins - genetics Nuclear Proteins - metabolism Pedigree RNA, Messenger Sarcomeres - metabolism Sarcomeres - ultrastructure TOR1AIP1
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Beschreibung
Zusammenfassung:	Highlights • We identified TOR1AIP1 as a novel gene responsible for a myopathy with contractures. • Expression of LAP1B is absent in the patient skeletal muscle fibres. • Ultrastructural alterations of the nuclear envelope are observed. • Overexpression of LULL1 is detected in patient skeletal muscle. • This study expands the spectrum of genes associated with nuclear envelopathies.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2014.04.007