Associated Papers
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
35628876 (PubMed )
Supplement: jcm-11-02750-s001.zip › jcm-1640664-supplementary.pdf
Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy.
Jiang H et al.
Bmc Neurology, 2021
Novel compound heterozygous missense mutations in GDAP1 cause Charcot-Marie-Tooth type 4A.
Xue H et al.
Journal of Genetics, 2021
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Sivera R et al.
Scientific Reports, 2017
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.
García-Sobrino T et al.
Neuromuscular Disorders : Nmd, 2017
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