Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset-Reference-Cited by-同舟云学术

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Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset

Published:2017-07-10 Issue:4 Volume:3 Page:e167
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Smogavec Mateja,Zschüntzsch Jana,Kress Wolfram,Mohr Julia,Hellen Peter,Zoll Barbara,Pauli Silke,Schmidt Jens

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),Clinical Neurology

Reference7 articles.

1. Genetic basis of limb-girdle muscular dystrophies: the 2014 update;Nigro;Acta Myol,2014

2. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

3. Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

4. Fukutingene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement

5. Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Autosomal Recessive Limb-Girdle Muscular Dystrophies;Current Clinical Neurology;2023

2. Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern;International Journal of Molecular Sciences;2022-06-15

3. Biomechanical Properties of the Sarcolemma and Costameres of Skeletal Muscle Lacking Desmin;Frontiers in Physiology;2021-08-19

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