Expanding the phenotypic spectrum associated with mutations of DYNC1H1-Reference-Cited by-同舟云学术

Expanding the phenotypic spectrum associated with mutations of DYNC1H1

Published:2017-07 Issue:7 Volume:27 Page:607-615
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

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

Funder

The Fred Liuzzi Foundation

NHMRC

Department of Health Future Health WA Merit Awards

TFLF

AFM

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

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3. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q;Melki;Nature,1990

4. Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells;Oates;Brain,2012

5. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32;Harms;Neurology,2010

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