Late onset in dysferlinopathy widens the clinical spectrum-Reference-Cited by-同舟云学术

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Late onset in dysferlinopathy widens the clinical spectrum

Published:2008-04 Issue:4 Volume:18 Page:288-290
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Klinge L.,Dean A.F.,Kress W.,Dixon P.,Charlton R.,Müller J.S.,Anderson L.V.,Straub V.,Barresi R.,Lochmüller H.,Bushby K.

Publisher

Elsevier BV

Subject

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

Reference14 articles.

1. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B;Bashir;Nat Genet,1998

2. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy;Liu;Nat Genet,1998

3. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype;Illa;Ann Neurol,2001

4. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes;Nguyen;Arch Neurol,2007

5. Clinical heterogeneity in dysferlinopathy;Ueyama;Intern Med,2002

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1. The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments;Biomolecules;2024-02-21

2. Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report;BMC Musculoskeletal Disorders;2024-02-16

3. Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review;Journal of Clinical Neuromuscular Disease;2023-12

4. Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile;Neuromuscular Disorders;2023-10

5. Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy;Neuromuscular Disorders;2023-02

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