Expanding the phenotypic spectrum associated with mutations of DYNC1H1

Highlights • Serial muscle biopsies characterise the temporal sequence of SMALED pathology • Biopsy from youngest SMALED patient to date (one year old) • DYNC1H1 phenotype expanded to include congenital myopathy

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Bibliographische Detailangaben
Veröffentlicht in:	Neuromuscular disorders : NMD 2017-07, Vol.27 (7), p.607-615
Hauptverfasser:	Beecroft, Sarah J, McLean, Catriona A, Delatycki, Martin B, Koshy, Kurian, Yiu, Eppie, Haliloglu, Goknur, Orhan, Diclehan, Lamont, Phillipa J, Davis, Mark R, Laing, Nigel G, Ravenscroft, Gianina
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Triphosphatases - metabolism Adolescent Adult Aged Australia Child Child, Preschool Cytoplasmic Dyneins - genetics Diagnosis by sequencing DYNC1H1 Exome sequencing Family Health Female Genetic Association Studies Humans Infant Male Middle Aged Muscle, Skeletal - metabolism Muscle, Skeletal - pathology Mutation - genetics Myopathy Myosins - metabolism Neurology Neuromuscular Diseases - genetics Neuromuscular Diseases - pathology Phenotype SMALED Turkey Young Adult
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Beschreibung
Zusammenfassung:	Highlights • Serial muscle biopsies characterise the temporal sequence of SMALED pathology • Biopsy from youngest SMALED patient to date (one year old) • DYNC1H1 phenotype expanded to include congenital myopathy
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2017.04.011