Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy-Reference-Cited by-同舟云学术

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Published:2018-12-04 Issue:2 Volume:266 Page:353-360
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Sainio Markus T.,Välipakka Salla,Rinaldi Bruno,Lapatto Helena,Paetau Anders,Ojanen Simo,Brilhante Virginia,Jokela Manu,Huovinen Sanna,Auranen Mari,Palmio Johanna,Friant Sylvie,Ylikallio Emil,Udd Bjarne,Tyynismaa Henna

Funder

Academy of Finland

CNRS

Université de Strasbourg

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/article/10.1007/s00415-018-9137-8/fulltext.html

Reference10 articles.

1. Nigro V, Savarese M (2014) Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 33:1–12

2. Liewluck T, Milone M (2018) Untangling the complexity of limb-girdle muscular dystrophies. Muscle Nerve 58(2):167–177

3. Vissing J (2016) Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies. Curr Opin Neurol 29:635–641

4. O’Grady GL, Best HA, Sztal TE et al (2016) Variants in the oxidoreductase PYROXD1 cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. Am J Hum Genet 99:1086–1105

5. Saha M, Reddy HM, Salih MA et al (2018) Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiol Genom 50:929–939

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