Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference18 articles.
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2. Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis;Yalvac;Skelet Muscle,2017
3. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A;Richard;Cell,1995
4. Muscle atrophy in limb girdle muscular dystrophy 2A: a morphometric and molecular study;Fanin;Neuropathol Appl Neurobiol,2013
5. Autosomal dominant calpainopathy due to heterozygous CAPN3 c.643_663del21;Martinez-Thompson;Muscle Nerve,2018
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1. Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review;Journal of Clinical Neuromuscular Disease;2023-12
2. Muscle MRI patterns for limb girdle muscle dystrophies: systematic review;Journal of Neurology;2023-05-02
3. Missense mutation of c.635 T > C in CAPN3 impairs muscle injury repair in a Limb‐Girdel Muscular Dystropy Model;Clinical Genetics;2023-03-31
4. Inherited myopathies in patients from Sub-Saharan Africa: Results from a retrospective cohort;Journal of Clinical Neuroscience;2022-12
5. A case for genomic medicine in South African paediatric patients with neuromuscular disease;Frontiers in Pediatrics;2022-11-17
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