Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population-Reference-Cited by-同舟云学术

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Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population

Published:2018-06-19 Issue:4 Volume:90 Page:490-493
ISSN:0022-3050
Container-title:Journal of Neurology, Neurosurgery & Psychiatry
language:en
Short-container-title:J Neurol Neurosurg Psychiatry

Author:

Johnson Katherine,De Ridder Willem,Töpf Ana,Bertoli Marta,Phillips Lauren,De Jonghe Peter,Baets Jonathan,Deconinck Tine,Rakocevic Stojanovic Vidosava,Perić Stojan,Durmus Hacer,Jamal-Omidi Shirin,Nafissi Shahriar,Mongini Tiziana,Łusakowska Anna,Busby Mark,Miller James,Norwood Fiona,Hudson Judith,Barresi Rita,Lek Monkol,MacArthur Daniel G,Straub Volker

Funder

Highly Specialised Service (HSS) for Neuromuscular Diseases

Association Belge contre les Maladies Neuromusculaire (ABMM) - Aide à la Recherche ASBL

Research Fund - Flanders

Kurt+Peter Foundation

Coalition to Cure Calpain 3

Samantha J Brazzo Foundation

Sanofi Genzyme

Ultragenyx

LGMD2I Research Fund

LGMD2D Foundation

Muscular Dystrophy UK

Publisher

BMJ

Subject

Psychiatry and Mental health,Neurology (clinical),Surgery

Reference5 articles.

1. Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin–Ligase Gene

2. Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing;Nectoux;Eur J Hum Genet,2015

3. Johnson K , Töpf A , Bertoli M , et al . Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Orphanet J Rare Dis 2017;12:173.doi:10.1186/s13023-017-0722-1

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

5. PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

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

2. Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy;Frontiers in Neurology;2024-01-18

3. Tripartite Motif-Containing Protein 32 (TRIM32): What Does It Do for Skeletal Muscle?;Cells;2023-08-19

4. TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype–phenotype correlation;Skeletal Muscle;2023-05-22

5. Muscle MRI patterns for limb girdle muscle dystrophies: systematic review;Journal of Neurology;2023-05-02

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