Homozygous truncating mutation in prenatally expressed skeletal isoform (IC) of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

Homozygous truncating mutation in prenatally expressed skeletal isoform (IC) of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

Highlights • Mutation expressed only in the fetal TTN isoform as cause of arthrogryposis multiplex congenita and core myopathy. • This finding expands the phenotypic spectrum of the TTN gene. • Its pathogenicity is supported by evidence of maternal isodisomy for chromosome 2.

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Bibliographische Detailangaben
Veröffentlicht in:Neuromuscular disorders : NMD 2017-02, Vol.27 (2), p.188-192
Hauptverfasser: Fernández-Marmiesse, Ana, Carrascosa-Romero, M. Carmen, Alfaro Ponce, Blanca, Nascimento, Andres, Ortez, Carlos, Romero, Norma, Palacios, Lourdes, Jimenez-Mallebrera, Cecilia, Jou, Cristina, Gouveia, Sofía, Couce, Ma Luz
Format: Artikel
Sprache:eng
Schlagworte:
Arthrogryposis - genetics
Arthrogryposis multiplex congenita
Connectin - genetics
Core myopathy
Humans
Infant, Newborn
Isodisomy
Muscular Diseases - congenital
Muscular Diseases - genetics
Mutation
Neurology
Prenatally expressed isoform
Protein Isoforms
TTN
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Beschreibung
Zusammenfassung:Highlights • Mutation expressed only in the fetal TTN isoform as cause of arthrogryposis multiplex congenita and core myopathy. • This finding expands the phenotypic spectrum of the TTN gene. • Its pathogenicity is supported by evidence of maternal isodisomy for chromosome 2.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2016.11.002