A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients

Clinical Genetics

Volumn 87, Issue 6, 2015, Pages 594-598

  Choi, B O ^a   Nakhro, K ^b   Park, H J ^b   Hyun, Y S ^b   Lee, J H ^b   Kanwal, S ^c   Jung, S C ^d   Chung, K W ^b  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Kongju National University   (South Korea)

^c COMSATS Institute of Information Technology ^*  (Pakistan)

^d Mokdong Hospital   (South Korea)

Author keywords

Charcot Marie Tooth disease 2A; Exome; Genotype phenotype correlation; Korean; mitofusin 2

Indexed keywords

GUANOSINE TRIPHOSPHATASE; MITOFUSIN 2; MFN2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHARCOT MARIE TOOTH DISEASE 2A; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; DELETION MUTANT; DISEASE SEVERITY; EXOME; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; KOREAN (PEOPLE); MAJOR CLINICAL STUDY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CHARCOT-MARIE-TOOTH DISEASE; CHEMISTRY; FAMILY; GENETIC ASSOCIATION; GENETICS; GENOTYPE; INFANT; KOREA; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

ADOLESCENT; ADULT; AGE OF ONSET; ALLELES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY; GENETIC ASSOCIATION STUDIES; GENOTYPE; GTP PHOSPHOHYDROLASES; HUMANS; INFANT; KOREA; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84928771736     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12432     Document Type: Article

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