A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family-Reference-Cited by-同舟云学术

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family

Published:2015-01 Issue:1 Volume:25 Page:55-59
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Baranello Giovanni,Saredi Simona,Sansanelli Serena,Savadori Paolo,Canioni Eleonora,Chiapparini Luisa,Balestri Paolo,Malandrini Alessandro,Arnoldi Maria Teresa,Pantaleoni Chiara,Morandi Lucia,Mora Marina

Funder

Italian Telethon

EuroBioBank and Telethon Network of Genetic Biobanks

Publisher

Elsevier BV

Subject

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

Reference17 articles.

1. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan;Godfrey;Brain,2007

2. Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Diagnostic approach to the congenital muscular dystrophies;Bönnemann;Neuromuscul Disord,2014

3. P097 A new locus for an autosomal recessive congenital muscular dystrophy without brain involvement maps to chromosome 7p21;Cirak;Eur J Paediatr Neurol,2009

4. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome;Willer;Nat Genet,2012

5. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan;Roscioli;Nat Genet,2012

Cited by 7 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. MRI for the diagnosis of limb girdle muscular dystrophies;Current Opinion in Neurology;2024-08-12

2. Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update;INDIAN J PATHOL MICR;2022

3. Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration;Frontiers in Pediatrics;2021-08-18

4. Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients;Molecular Genetics and Metabolism Reports;2020-12

5. Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period;Neuromuscular Disorders;2017-09