A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy-Reference-Cited by-同舟云学术

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A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy

Published:2018-08 Issue:8 Volume:28 Page:671-674
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Zaum Ann-Kathrin,Kolokotronis Konstantinos,Kress Wolfram,Goebel Hans-Hilmar,Rost Simone,Seeger Jürgen^ORCID

Publisher

Elsevier BV

Subject

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

Reference13 articles.

1. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix;Ibraghimov-Beskrovnaya;Nature,1992

2. Identification and characterization of the dystrophin anchoring site on beta-dystroglycan;Jung;J Biol Chem,1995

3. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin;Ervasti;J Cell Biol,1993

4. Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy;Toda;Congenit Anom (Kyoto),2003

5. Glycosylation with ribitol-phosphate in mammals: new insights into the O-mannosyl glycan;Manya;Biochim Biophys Acta,2017

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