A new phenotype of dysferlinopathy with congenital onset-Reference-Cited by-同舟云学术

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A new phenotype of dysferlinopathy with congenital onset

Published:2009-01 Issue:1 Volume:19 Page:21-25
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Paradas C.,González-Quereda L.,De Luna N.,Gallardo E.,García-Consuegra I.,Gómez H.,Cabello A.,Illa I.,Gallano P.

Publisher

Elsevier BV

Subject

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

Reference20 articles.

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

2. Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region;Passos-Bueno;Genomics,1995

3. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case;Miyoshi;Brain,1986

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

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

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

2. Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases;Neuromuscular Disorders;2024-01

3. The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls;International Journal of Molecular Sciences;2023-12-12

4. Reasons for misdiagnosis of polymyositis in patients with dysferlinopathy: a clinical case;Neuromuscular Diseases;2022-12-13

5. A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing;Molecular Genetics & Genomic Medicine;2022-12-04

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