Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I-Reference-Cited by-同舟云学术

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Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I

Published:2011-01 Issue:1 Volume:21 Page:41-46
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Stensland Eva,Lindal Sigurd,Jonsrud Christoffer,Torbergsen Torberg,Bindoff Laurence A.,Rasmussen Magnhild,Dahl Arve,Thyssen Frances,Nilssen Øivind

Publisher

Elsevier BV

Subject

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

Reference19 articles.

1. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3;Driss;Neuromuscul Disord,2000

2. Mutations in the fukutin-related protein gene (FKRP) identify Limb Girdle Muscular Dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C;Brockington;Hum Mol Genet,2001

3. Functional requirements for fukutin-related protein in the Golgi apparatus;Esapa;Hum Mol Genet,2002

4. Mutations in the FKRP gene can cause muscle–eye–brain disease, Walker–Warburg syndrome;Beltran-Valero de Bernabe;J Med Genet,2004

5. Mutations in the Fukutin-Related Protein Gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan;Brockington;Am J Hum Genet,2001

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1. Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9;Journal of Neuromuscular Diseases;2024-01-02

2. Muscular Dystrophy: Underlying Cellular and Molecular Mechanisms and Various Nanotherapeutic Approaches for Muscular Dystrophy;Mechanism and Genetic Susceptibility of Neurological Disorders;2024

3. Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies;Frontiers in Molecular Biosciences;2023-12-07

4. Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network;Neurology Genetics;2023-12

5. Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients;Orphanet Journal of Rare Diseases;2023-11-16

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